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  3. Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

Fecha de publicación:

Autores de IIS La Fe

Abstract

PCDH15, encoding protocadherin 15, is mutated in Usher syndrome type 1F (USH1F) patients. Not only point mutations, but also large deletions have been detected within this gene. However, the detection and characterization of gross deletions in the USH1F locus have been difficult. The purpose of the present work was to identify large genomic rearrangements of PCDH15 in a cohort of patients and to accurately identify the location of the junction breakpoints of the detected rearrangements.

Datos de la publicación

ISSN/ISSNe:
0146-0404, 1552-5783

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE  ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Tipo:
Article
Páginas:
5480-5485
PubMed:
20538994
Factor de Impacto:
2,038 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 28

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