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Volumn 129, Issue 6, 2009, Pages 688-693

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome

Author keywords

BO syndrome; Branchio oto syndrome; EYA1; Korean; Mutation; Splice site

Indexed keywords

ADOLESCENT; ARTICLE; BRANCHIAL DEFECT; BRANCHIOOTO SYNDROME; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EAR MALFORMATION; EYA1 GENE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HEARING LOSS; HUMAN; INTRON; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; TYMPANOMETRY; ADULT; ASIAN; BRANCHIOOTORENAL SYNDROME; GENETICS; KOREA; MUTATION; PEDIGREE; RNA SPLICING;

EID: 67650338288     PISSN: 00016489     EISSN: 16512553     Source Type: Journal    
DOI: 10.1080/00016480802342432     Document Type: Article
Times cited : (12)

References (20)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.