Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

IMPORTANCE: The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of the unknown disease modifiers can improve patient and family counseling and provide valuable inform...

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Détails bibliographiques
Publié dans:JAMA Ophthalmol
Auteurs principaux: Runhart, Esmee H., Khan, Mubeen, Cornelis, Stéphanie S., Roosing, Susanne, Del Pozo-Valero, Marta, Lamey, Tina M., Liskova, Petra, Roberts, Lisa, Stöhr, Heidi, Klaver, Caroline C. W., Hoyng, Carel B., Cremers, Frans P. M., Dhaenens, Claire-Marie
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2020
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7441467/
https://ncbi.nlm.nih.gov/pubmed/32815999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.2990
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