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Article

[Inherited retinal diseases in patients with ABCA4 gene mutations].

Vestnik oftalmologii - 1 Jan 2000

Sheremet N L, Grushke I G, Zhorzholadze N V, Tanas A S, Strelnikov V V

Abstract excerpt

ABCA4 is one of the main genes which mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. Wide prevalence of IRD, high heterogeneity of ABCA4 gene mutations that lead to impaired function of the protein with varying expressiveness make studying of the clinical and genetic characteristics of retinal diseases...

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Share to ATP-Binding Cassette Transporters
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Source

Identifiers

PMID: 30166513
DOI: 10.17116/oftalma201813404168

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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