Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

PURPOSE: 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 fet...

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Autori principali: Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2008
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2493031/
https://ncbi.nlm.nih.gov/pubmed/18682814
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