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Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

PURPOSE: PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hea...

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Bibliografski detalji
Glavni autori: Jaijo, Teresa, Oshima, Aki, Aller, Elena, Carney, Carol, Usami, Shin-ichi, Millán, José M., Kimberling, William J.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2012
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398493/
https://ncbi.nlm.nih.gov/pubmed/22815625
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