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

The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa. Since mutation analysis by DNA sequencing of exons 1–21 revealed only ∼63% of the expected USH2A mutations, we searche...

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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2004
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181950/
https://ncbi.nlm.nih.gov/pubmed/15015129
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