A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.

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作者信息

Hamid Mohammad, Karimipoor Morteza, Chaleshtori Morteza Hashemzadeh, Akbari Mohammad Taghi

机构信息

Department of Molecular Medicine, Pasteur Institute of Iran, No. 69, Pasteur Ave, 13164 Tehran, Iran.

出版信息

J Genet. 2009 Dec;88(3):359-62. doi: 10.1007/s12041-009-0054-6.

DOI:10.1007/s12041-009-0054-6

PMID:20086306

Abstract

摘要

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High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

Am J Med Genet A. 2005 Sep 1;137A(3):255-8. doi: 10.1002/ajmg.a.30884.

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

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J Mol Diagn. 2004 Nov;6(4):275-84. doi: 10.1016/S1525-1578(10)60522-3.

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