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Article

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.

American journal of medical genetics. Part A - 15 Feb 2005

Mir Asif, Ansar Muhammad, Chahrour Maria H, Pham Thanh L, Wajid Muhammad, Haque Sayedul, Yan Kai, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for approximately 75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 15637723
DOI: 10.1002/ajmg.a.30516
PMCID: PMC2909100

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