Submission of Novel Mutations in GeneBank Database

Homo sapiens isolate 1514CT NDUFS1 gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Torab,E., Hoseininasab,F.,Keyvani,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Whole exome sequencing revealed a novel mutation in NDUFS1 gene in an Iranian patient with psychomotor retardation which established the diagnosis of Leigh syndrome in this family

Accession: KY024701.1
GI: 1248647094

 AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Torab,E., Keyvani,F.,Hoseininasab,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Targeted next-generation sequencing revealed a novel homozygous mutation in SLC26A4 in an Iranian patient with hearing impairment

Accession: KY024700.1
GI: 1248647092

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Torab,E., Keyvani,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Autosomal Dominant Nonsyndromic Holoprosencephly Detected in an Iranian Family: Whole Exome Sequencing Revealed A Novel Nonsense Mutation in SIX3 Gene

Accession: KX710183.1
GI: 1233272226

 AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Keivani,F., Darzi Ramandi,S., Torab,E. and Zeinab,B.
TITLE: Identification of a Novel Mutation in TP53 Gene in an Iranian Family with Hereditary Cancer

Accession: KX710182.1
GI: 1233272224

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Hoseininasab,F., Keyvani,F., Torab,E., Darzi Ramandi,S. and Barati,Z.
TITLE: Comprehensive Carrier Screening using Whole Exome Sequencing Revealed a Novel Mutation in ARSA Gene in an Iranian Family with
Arylsulfatase A Deficiency

Accession: KX710181.1
GI: 1233272222

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Keivani,F., Darzi Ramandi,S., Torab,E. and Zeinab,B.
TITLE: Detection of A Novel Mutation in HCFC1 in an Iranian Family with X-linked Intellectual Disability using Whole Exome Sequencing

Accession: KX710180.1
GI: 1233272220

Homo sapiens GBA gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Torab,E., Keyvani,F., Hoseininasab,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Comprehensive Carrier Screening using Next Generation Sequencing Revealed a Novel Mutation in GBA Gene in an Iranian Family with Gaucher Disease

Accession: KX710179.1
GI: 1233272218

Homo sapiens isolate Hoj-Feyz retinitis pigmentosa 2 (RP2) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Tabatabaie,R. and Hoseini,A.

TITLE: A Novel Splice Site Mutation in RP2 Gene was Identified in an Iranian Family with X-Linked Retinitis Pigmentosa

Accession: KX272602.1
GI: 1050811782

Homo sapiens isolate Narg-Baba truncated NPHS1 (NPHS1) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Mohamadhashem,F., Amiri,H., Darunkolaee,A. and Barati,Z.
TITLE: Detection of a Novel Small Duplication in NPHS1 Gene in an Iranian Family with Autosomal Recessive Congenital Nephrotic Syndrome

Accession: KU951143.1
GI: 1050811780

Homo sapiens isolate Far-Khos ST3GAL3 (ST3GAL3) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Torab,E., Keyvani,F., Hoseininasab,F., Darzi Ramandi,S. and Barati,Z.
TITLE: A novel homozygous mutation in ST3GAL3 gene was identified in an Iranian patient with intellectual disability

Accession: KU951142.1
GI: 1050811778

Homo sapiens isolate Mob-Fer PYCR1 (PYCR1) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Keivani,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Diagnosis of cutis laxa type 2B in an Iranian patient with syndromic intellectual disability using whole exome sequencing

Accession: KU951141.1
GI: 1050811776

Homo sapiens isolate Ahu-Kur PCCB (PCCB) gene, complete cds

AUTHORS Ghaffari,S.R., Rafati,M., Hoseini,A., Keivani,F., Darzi Ramandi,S. and Barati,Z.
TITLE Whole Exome Sequencing Revealed a Novel Mutation in PCCB Gene in an Iranian Patient with Intellectual Disability

Accession: KU951140.1
GI: 1050811774

Homo sapiens isolate Fat-Azar truncated Bardet-Biedl syndrome 12 protein (BBS12) gene, complete cds

AUTHORS Ghaffari,S.R., Rafati,M. and Barati,Z.

TITLE A Novel Truncating Mutation Detected by Targeted Next Generation Sequencing in an Iranian Patient with Bardet-Biedl Syndrome

Accession: KX197887.1
GI: 1045861425

Homo sapiens isolate Ro-Ka cytochrome P450 4F22 (CYP4F22) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Mohamadhashem,F., Amiri,H. and Barati,Z.

TITLE: Identification of a Novel Mutation in CYP4F22 Gene in an Iranian Family with Autosomal Recessive Congenital Ichthyosis using Targeted Next Generation Sequencing

Accession: KU726869.1
GI: 1045860934

Homo sapiens isolate So-La collagen type IX alpha 1 (COL9A1) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A., Keivani,F., Darzi Ramandi,S. and Barati,Z.
TITLE: Identification of A Novel Truncating Mutation in COL9A1 Gene by Next Generation Sequencing: Diagnosis of Stickler Syndrome Type IV in an Iranian Patient with Hearing Impairment

Accession: KU715985.1
GI: 1045860932

Homo sapiens Niemann-Pick C1 (NPC1) gene, NPC1-1415TC allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A. and Keivani,F.
TITLE: Identification of a Novel Mutation in NPC1 Gene in an Iranian Patient with Niemann-Pick Disease Type C using Next Generation
Sequencing Technique

Accession: KU695564.1
GI: 1040334122

Homo sapiens truncated Niemann-Pick C1 (NPC1) gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: Next-Generation Sequencing Revealed a Novel Mutation in NPC1 Gene in an Iranian Family with Niemann-Pick Disease

Accession: KT001454.1
GI: 949607345

Homo sapiens glycogen debranching protein (AGL) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Mohamadhashem,F., Hoseini,A. and Hoseininasab,F.
TITLE: Identification of a Novel Mutation in AGL Gene in an Iranian Family with Glycogen Storage Disease Type III using Next-Generation Sequencing

Accession: KT001453.1
GI: 949607343

Homo sapiens fructose-bisphosphate aldolase A (ALDOA) gene, ALDOA-289GC allele, partial cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A. and Mohamadhashem,F.
TITLE: Identification of a novel mutation in ALDOA gene in an Iranian patient with glycogen storage disease

Accession: KP718611.1
GI: 925169870

Homo sapiens rhodopsin (RHO) gene, RHO-930CG allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Roshandel,D., Khorami Sarvestani,S., Hoseini,A., Novin Baheran,N. and Ahmadieh,H.
TITLE: Identification of a novel mutation in RHO gene in an Iranian patient with autosomal dominant retinitis pigmentosa

Accession: KP718610.1
GI: 925169868

Homo sapiens phosphorylase, glycogen, muscle (PYGM) gene, PYGM-2398CT allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A. and Mohamadhashem,F.
TITLE: Identification of a novel mutation in PYGM gene in an Iranian patient with glycogen storage disease

Accession: KP718609.1
GI: 925169866

Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided (AGL) gene, AGL-1592CG allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Hoseini,A. and Mohamadhashem,F.
TITLE: Identification of a novel mutation in AGL gene in an Iranian patient with glycogen storage disease

Accession: KP718608.1
GI: 925169864

Homo sapiens isolate Ki-Gh KCNT1 protein (KCNT1) gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: Whole Exome Sequencing Revealed a Novel Heterozygous Mutation in KCNT1 Gene in an Iranian Patient with Intellectual Disability

Accession: KP869068.1
GI: 922312245

Homo sapiens isolate SG BCKDHB protein (BCKDHB) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Mohamadhashem,F., Hoseini,A. and
Tabatabaie,R.
TITLE: Targeted Next Generation Sequencing Revealed a Novel Mutation in BCKDHB gene in an Iranian Patient with Maple Syrup Urine Disease

Accession: KP869067.1
GI: 922312243

Homo sapiens isolate NN truncated Fanconi anemia group G protein (FANCG) gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: Identification of a Truncating Mutation in FANCG Gene in an Iranian Patient with Fanconi Anemia using Targeted Next Generation
Sequencing Technique

Accession: KP869066.1
GI: 922312241

Homo sapiens usher syndrome 2A gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Tabatabaie,R.
TITLE: Next Generation Sequencing Revealed a Novel Variant in USH2A Gene in an Iranian Family with Inherited Retinal Disorder

Accession: KP836349.1
GI: 913524350

Homo sapiens tubby-like protein 1 gene, partial cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Tabatabaie,R.
TITLE: Next Generation Sequencing Revealed a Novel Mutation in TULP1 Gene in an Iranian Patient with Autosomal Recessive Retinitis Pigmentosa

Accession: KP836348.1
GI: 913524348

Homo sapiens truncated solute carrier family 26 gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Hoseininasab,F.
TITLE: Next Generation Sequencing Revealed a Novel Mutation in SLC26A4 Gene in an Iranian Patient with Autosomal Recessive Hearing
Impairment

Accession: KP836347.1
GI: 913524346

Homo sapiens clone FR EDAR-associated death domain (EDARADD) gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Hoseininasab,F.
TITLE: Targeted Next Generation Sequencing Revealed a Novel Mutation in EDARADD gene in an Iranian Patient with Hypohidrotic Ectodermal
Dysplasia

Accession: KP742956.1
GI: 902818721

Homo sapiens rhodopsin (RHO) gene, RHO-284TC allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Roshandel,D., Khorami Sarvestani,S.,
Hoseini,A., Novin Baheran,N. and Ahmadieh,H.
TITLE: Identification of a Novel Mutation in RHO Gene in an Iranian Patient with Autosomal Dominant Retinitis Pigmentosa

Accession: KP734176.1
GI: 893688323

Homo sapiens truncated methylmalonyl CoA mutase (MUT) gene, MUT-360dupT allele, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: A Novel Truncating Mutation in MUT gene in an Iranian patient with Methyl Malonic Acidemia which is Identified by Next Generation
Sequencing Technique

Accession: KP750178.1
GI: 893670059

Homo sapiens nuclear receptor subfamily 2 group E member 3 protein gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: Next Generation Sequencing Revealed a Novel Mutation in NR2E3 in an Iranian Patient with Retinitis Pigmentosa

Accession: KR052806.1
GI: 813576678

Homo sapiens E3 ubiquitin-protein ligase Topors gene, partial cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Tabatabaei,R.
TITLE: Next Generation Sequencing Revealed a Novel Mutation in TOPORS Gene (E3 ubiquitin-protein ligase Topors isoform 1) in an Iranian Patient with Retinitis Pigmentosa

Accession: KR052805.1
GI: 813576476

Homo sapiens clone 737TA ACVR1 gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: A Novel Mutation in ACVR1 Gene, Detected in a Patient with Fibrodysplasia Ossificans Progressive

Accession: KM873050.1
GI: 751259039

Homo sapiens clone 690GA-Nonsense truncated HSD3B2 gene, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M. and Mohamadhashem,F.
TITLE: A Novel Mutation in HSD3B2 Gene, Detected in a Patient with Congenital Adrenal Hyperplasia

Accession: KM873049.1
GI: 751259028

Homo sapiens clone 5846delTC truncated ALSM1 gene, complete cds

AUTHORS: Ghaffari,S.R. and Rafati,M.
TITLE: A Novel Mutation in ALSM1 Gene, Detected in a Patient with Familial Autosomal Recessive Cone Rod Dystrophy

Accession: KM873048.1
GI: 751259017

Homo sapiens rhodopsin (RHO) gene, RHO-R177K allele, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Roshandel,D., Khorami Sarvestani,S., Hoseini,A., Novin Baheran,N. and Ahmadieh,H.
TITLE: A Novel Mutation in RHO Gene Detected In an Iranian Family with Autosomal Dominant Retinitis Pigmentosa

Accession: KJ849294.1
GI: 672919282

Homo sapiens truncated E-cadherin (CDH1) mRNA, complete cds

AUTHORS: Ghaffari,S.R., Rafati,M., Sabokbar,T. and Dastan,J.
TITLE: A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Iran

Accession: EU709494.1
GI: 189310875

Homo sapiens alpha-glucosidase (GAA) mRNA, GAA-P457L allele, complete cds

AUTHORS: Ghaffari,S.R., Sabokbar,T., Tahmasebi,S. and Dastan,J.
TITLE: Identification of a novel mutation in the acid alpha glucosidase gene causing juvenile form of Pompe disease in Iranian population

Accession: DQ907243.1

GI: 114159822

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