A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family

Clinical Genetics

Volumn 72, Issue 5, 2007, Pages 471-477

  Cheng, A B ^a,b   Han, D Y ^a   Dai, P ^a   Sun, H J ^a   Tao, R ^c   Sun, Q ^a   Yan, C ^c   Qin, C ^c   Wang, H Y ^b   Ouyang, X M ^d   Yang, S Z ^a   Cao, J Y ^a   Feng, G Y ^c   Du, L L ^d   Zhang, Y Z ^b   Zhai, S Q ^a   Yang, W Y ^a   Liu, X Z ^a,d   He, L ^c   Yuan, Hui Jun ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b SICHUAN UNIVERSITY   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

DFNA5; Hearing loss; Linkage analysis; Mutation

Indexed keywords

ADENINE; GENE PRODUCT; GUANINE; PROTEIN DFNA5; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DONOR SITE; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AGE OF ONSET; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HEARING LOSS; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; RECEPTORS, ESTROGEN; RNA SPLICE SITES;

EID: 35348897928     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00889.x     Document Type: Article

References (11)

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