Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

Clinical Genetics

Volumn 83, Issue 5, 2013, Pages 477-481

  Gao, J ^a   Xue, J ^a   Chen, Li ^a   Ke, X ^a   Qi, Y ^a   Liu, Y ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Autosomal dominant 9; COCH gene; Deafness; Novel mutation; Whole exome sequencing

Indexed keywords

COAGULATION FACTOR C HOMOLOG; COCHLIN; CYSTEINE; DOMINANT NONSYNDROMIC SENSORINEURAL DEAFNESS 9 PROTEIN; PROTEIN; TYROSINE; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; DISEASE COURSE; DNA SEQUENCE; EXOME; EXON; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; HEARING IMPAIRMENT; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CHILD; CONSANGUINITY; EXOME; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE ORDER; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LOD SCORE; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; YOUNG ADULT;

LIMULUS;

EID: 84875891590     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12006     Document Type: Article

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