Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated...

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Bibliographic Details
Main Authors: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:HGG Advances
Subjects:
ABCA4
ABCA4-associated retinopathies
missing heritability
smMIPs sequencing
deep-intronic variants
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000696

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http://www.sciencedirect.com/science/article/pii/S2666247723000696

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