换一批Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.
第一作者：
Maryam,Sobhani
第一单位：
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
作者：
关键词
BLASTBasic Local Alignment Search ToolDIDI-DM-OA-DDMDNADupEDTAFVCGenetic linkage analysisIranLODNCBINational Center for Biotechnology InformationNovel mutationOAPAGEPCRSLINKSTRVCUGWFS1WSWolfram syndromeWolfram syndrome 1 geneaaamino aciddNTPddH2Odeoxyribonucleic aciddeoxyribonucleotide triphosphatediabetes insipidusdiabetes insipidus, diabetes mellitus, optic atrophy and deafnessdiabetes mellitusdouble-distilled dihydrogen monoxide/waterduplicationethylenediaminetetraacetic acidfrequency volume chartlogarithm of oddsoptic atrophypolyacrylamide gel electrophoresispolymerase chain reactionshort tandem repeatssimulation of linkagevoiding cystourethrogram
医学主题词
氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);移码突变(Frameshift Mutation);遗传关联研究(Genetic Association Studies);基因连锁(Genetic Linkage);人类(Humans);伊朗(Iran);膜蛋白质类(Membrane Proteins);微卫星重复(Microsatellite Repeats);分子序列数据(Molecular Sequence Data);诱变, 插入(Mutagenesis, Insertional);系谱(Pedigree);Wolfram综合征(Wolfram Syndrome);青年人(Young Adult)
DOI
10.1016/j.gene.2013.06.040
PMID
23845777
发布时间
2013-08-30
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Gene
309-13页
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