Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

doi:10.1167/iovs.14-14938

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Article

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Investigative ophthalmology & visual science - 23 Oct 2014

Sánchez-Alcudia Rocío, Cortón Marta, Ávila-Fernández Almudena, Zurita Olga, Tatu Sorina D, Pérez-Carro Raquel, Fernandez-San Jose Patricia, Lopez-Martinez Miguel Ángel, del Castillo Francisco J, Millan Jose M, Blanco-Kelly Fiona, García-Sandoval Blanca, Lopez-Molina Maria Isabel, Riveiro-Alvarez Rosa, Ayuso Carmen

Abstract excerpt

PURPOSE: The aim of this study was to deepen our knowledge on the basis of intrafamilial genetic heterogeneity of inherited retinal dystrophies (RD) to further discern the contribution of individual alleles to the pathology. METHODS: Families with intrafamilial locus and/or allelic heterogeneity were selected from a cohort of 873 characterized of 2468 unrelated RD families. Clinical examination included visual...

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Identifiers

PMID: 25342620
DOI: 10.1167/iovs.14-14938

Genes

CRB1
ABCA4
BBS1
CERKL
RDH12
TULP1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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