Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

Article

Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix , Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M. (2019) Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Human Mutation 40 (10), pp. 1749-1759.

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Details

Item type	Article
Journal or Publication Title	Human Mutation
Publisher	Wiley
Place of Publication	HOBOKEN
Volume	40
Number of Issue or Book Chapter	10
Page Range	pp. 1749-1759
Date	2019
Date of publication	03 Sep 2021 09:44
Institutions	Medicine > Lehrstuhl für Humangenetik
Identification Number	Value Type 10.1002/humu.23787 DOI
Keywords	CONE-ROD DYSTROPHY; SYNONYMOUS VARIANTS; RETINAL DISEASE; GENE; MUTATION; METAANALYSIS; ABCA4; deep-intronic variants; next generation sequencing; smMIPs; Stargardt disease
Dewey Decimal Classification	600 Technology > 610 Medical sciences Medicine
Status	Published
Refereed	Yes, this version has been refereed
Created at the University of Regensburg	Yes
Item ID	48207

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