Ontology highlight
ABSTRACT:
SUBMITTER: Bustamante-Aragones A
PROVIDER: S-EPMC2493031 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Bustamante-Aragones Ana A Vallespin Elena E Rodriguez de Alba Marta M Trujillo-Tiebas Maria Jose MJ Gonzalez-Gonzalez Cristina C Diego-Alvarez Dan D Riveiro-Alvarez Rosa R Lorda-Sanchez Isabel I Ayuso Carmen C Ramos Carmen C
Molecular vision 20080804
<h4>Purpose</h4>Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC).<h4>Methods</h4> ...[more]