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Article

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

International journal of molecular sciences - 13 May 2020

Ścieżyńska Aneta, Soszyńska Marta, Komorowski Michał, Podgórska Anna, Krześniak Natalia, Nogowska Aleksandra, Smolińska Martyna, Szulborski Kamil, Szaflik Jacek P, Noszczyk Bartłomiej, Ołdak Monika, Malejczyk Jacek

Abstract excerpt

ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of ABCA4 variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32413971
DOI: 10.3390/ijms21103430
PMCID: PMC7279462

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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