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Article

[Molecular genetic diagnosis of Stargardt disease].

Vestnik oftalmologii - 1 Jan 2000

Sheremet N L, Zhorzholadze N V, Ronzina I A, Grushke I G, Kurbatov S A, Chukhrova A L, Loginova A N, Shcherbakova P O, Tanas A S, Polyakov A V, Strel'nikov V V

Abstract excerpt

AIM: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. MATERIAL AND METHODS: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients...

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Source

Identifiers

PMID: 28980559
DOI: 10.17116/oftalma201713344-11

Genes

ABCA4
CNGB3
ELOVL4
PROM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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