The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

Abstract Background Early‐onset photoreceptor dystrophies are a major cause of irreversible visual impairment in children and young adults. This clinically heterogeneous group of disorders can be caused by mutations in many genes. Nevertheless, to date, 30%–40% of cases remain genetically unexplaine...

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Hlavní autoři:	Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2019-06-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	early‐onset retinal dystrophy intronic variant TULP1 whole exome sequencing
On-line přístup:	https://doi.org/10.1002/mgg3.660
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