A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Yusuf, I, Shanks, M, Clouston, P, Maclaren, R
Формат:	Journal article
Хэвлэсэн:	Taylor and Francis 2017

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