Article
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
American journal of medical genetics. Part A - 15 Jul 2007
Meyer Nicole C, Alasti Fatemeh, Nishimura Carla J, Imanirad Parisa, Kahrizi Kimia, Riazalhosseini Yasser, Malekpour Mahdi, Kochakian Nafiseh, Jamali Payman, Van Camp Guy, Smith Richard J H, Najmabadi Hossein
Abstract excerpt
Forty-five consanguineous Iranian families segregating autosomal recessive nonsyndromic hearing loss (ARNSHL) and negative for mutations at the DFNB1 locus were screened for allele segregation consistent with homozygosity by descent (HBD) at the DFNB21 locus. In three families demonstrating HBD at this locus, mutation screening of TECTA led to the identification of three novel homozygous mutations: one frameshift...
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