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...

Ful tanımlama

Kaydedildi:

Detaylı Bibliyografya
Asıl Yazarlar:	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
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Elsevier 2023-10-01
Seri Bilgileri:	HGG Advances
Konular:	ABCA4 ABCA4-associated retinopathies missing heritability smMIPs sequencing deep-intronic variants
Online Erişim:	http://www.sciencedirect.com/science/article/pii/S2666247723000696
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

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

Benzer Materyaller