Portal de recerca
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
Data de publicació:
Autors 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.
Dades de la publicació
- ISSN/ISSNe:
- 0146-0404, 1552-5783
- Tipus:
- Article
- Pàgines:
- 5480-5485
- DOI:
- 10.1167/iovs.10-5359
- PubMed:
- 20538994
- Factor d'Impacte:
- 2,038 SCImago ℠
- Quartil:
- Q1 SCImago ℠
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Cites Rebudes en Web of Science: 25
Documents
- No hi ha documents
Filiacions
Projectes associats
CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7
Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR
PI07/0558 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008
MOLECULAR MAECHANISMS OF RETINAL DEGENERATION IN HUMANS WITH RETINITIS PIGMENTOSA. ROLE OF INFLAMMATION, OXIDATIVE STRESS AND GLIAL ACTIVATION
CP09/00118 (MIGUEL SERVET) . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010
RED DE BIOBANCOS (BIOBANCOS)
RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010