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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

✍ Scribed by Margit Schraders; Kwanghyuk Lee; Jaap Oostrik; Patrick L.M. Huygen; Ghazanfar Ali; Lies H. Hoefsloot; Joris A. Veltman; Frans P.M. Cremers; Sulman Basit; Muhammad Ansar; Cor W.R.J. Cremers; Henricus P.M. Kunst; Wasim Ahmad; Ronald J.C. Admiraal; Suzanne M. Leal; Hannie Kremer


Book ID
113422760
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
915 KB
Volume
86
Category
Article
ISSN
0002-9297

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Identification of mutations in the conne
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Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc