Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy

IMPORTANCE: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dyst...

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Bibliografiska uppgifter
I publikationen:JAMA Ophthalmol
Huvudupphovsmän: Magliyah, Moustafa S., Geuer, Sinje, Alsalamah, Abrar K., Lenzner, Steffen, Drasdo, Mojgan, Schatz, Patrik
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Medical Association 2021
Ämnen:
Brief Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7844694/
https://ncbi.nlm.nih.gov/pubmed/33507209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.6085
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