Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II-Reference-Cited by-同舟云学术

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Published:2004-04 Issue:4 Volume:74 Page:738-744
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

van Wijk Erwin,Pennings Ronald J.E.,te Brinke Heleen,Claassen Annemarie,Yntema Helger G.,Hoefsloot Lies H.,Cremers Frans P.M.,Cremers Cor. W.R.J.,Kremer Hannie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference35 articles.

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2. The molecular genetics of Usher syndrome;Ahmed;Clin Genet,2003

3. The Pfam protein families database;Bateman;Nucleic Acids Res,2002

4. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation;Bernal;J Med Genet,2003

5. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure;Bhattacharya;J Cell Sci,2004

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