USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01038.x/fullpdf
Reference40 articles.
1. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium;Smith;Am J Med Genet,1994
2. Usher syndrome: definition and estimate of prevalence from two high-risk populations;Boughman;J Chronic Dis,1983
3. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa;Brownstein;Pediatr Res,2004
4. Usher’s syndrome - deafness and progressive blindness. Clinical cases, prevention, theory and literature survey;Vernon;J Chronic Dis,1969
5. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F;Ahmed;Am J Hum Genet,2001
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