Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1202-1211

  Bazazzadegan, Niloofar ^a   Sheffield, Abraham M ^b   Sobhani, Masoomeh ^c   Kahrizi, Kimia ^a   Meyer, Nicole C ^b   Van Camp, Guy ^d   Hilgert, Nele ^d   Abedini, Seyedeh Sedigheh ^a   Habibi, Farkhondeh ^e   Daneshi, Ahmad ^f   Nishimura, Carla ^b   Avenarius, Matthew R ^g   Farhadi, Mohammad ^f   Smith, Richard J H ^b   Najmabadi, Hossein ^a  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b UNIVERSITY OF IOWA   (United States)

^c Prevention Department   (Iran)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e Prevention Department   (Iran)

^f IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Autosomal dominant nonsyndromic hearing loss; Connexin 26; D46N; DFNA3; Iran

Indexed keywords

ASPARAGINE; ASPARTIC ACID;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; CONTROLLED STUDY; FOUNDER EFFECT; GENE; GJB2 GENE; HAPLOTYPE; HEARING LOSS; HUMAN; IRAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVIEW;

CONNEXINS; GENES, DOMINANT; HEARING LOSS; HUMANS; IRAN; MUTATION;

EID: 79954999465     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33209     Document Type: Review

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