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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it can provide ocular and extraocular progn...

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Detalles Bibliográficos
Autores principales:	Perrault, Isabelle, Hanein, Sylvain, Gérard, Xavier, Mounguengue, Nelson, Bouyakoub, Ryme, Zarhrate, Mohammed, Fourrage, Cécile, Jabot-Hanin, Fabienne, Bocquet, Béatrice, Meunier, Isabelle, Zanlonghi, Xavier, Kaplan, Josseline, Rozet, Jean-Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7922592/ https://www.ncbi.nlm.nih.gov/pubmed/33670832 http://dx.doi.org/10.3390/genes12020287

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