Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Bi-allelic pathogenic variants in <i>MERTK</i> cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for <i>MERTK</i>, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important in molecula...

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Bibliographic Details
Main Authors: Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gry Gellert-Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum-Nielsen, Karen Grønskov
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Genes
Subjects:
retinitis pigmentosa
<i>MERTK</i>
CNV
Online Access:https://www.mdpi.com/2073-4425/11/12/1517

Internet

https://www.mdpi.com/2073-4425/11/12/1517

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