A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family

International Journal of Pediatric Otorhinolaryngology

Volumn 78, Issue 8, 2014, Pages 1265-1268

  Chai, Yongchuan ^a,b   Chen, Dongye ^a,b   Wang, Xiaowen ^a,b   Wu, Hao ^a,b   Yang, Tao ^a,b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Autosomal dominant hearing loss; DFNA5; Spice site mutation; Target next generation sequencing

Indexed keywords

MESSENGER RNA; RNA; DFNA5 PROTEIN, HUMAN; ESTROGEN RECEPTOR; INTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; DFNA5 GENE; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTRON; LATE ONSET PROGRESSIVE NON SYNDROMIC HEARING LOSS; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; GENETICS; MUTATION; PEDIGREE; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; HEARING LOSS, SENSORINEURAL; HUMANS; INTEINS; MUTATION; PEDIGREE; RECEPTORS, ESTROGEN; RNA SPLICING; SEVERITY OF ILLNESS INDEX;

EID: 84904039455     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2014.05.007     Document Type: Article

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