Molecular Analysis of the <i>ABCA4</i> Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

Molecular Analysis of the <i>ABCA4</i> Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

<i>ABCA4</i> gene mutations are the cause of a spectrum of <i>ABCA4</i> retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i>ABCA4</i> has previously been observed almost exclusively in the retina. Therefore, studying th...

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Bibliographic Details
Main Authors: Aneta Ścieżyńska, Marta Soszyńska, Michał Komorowski, Anna Podgórska, Natalia Krześniak, Aleksandra Nogowska, Martyna Smolińska, Kamil Szulborski, Jacek P. Szaflik, Bartłomiej Noszczyk, Monika Ołdak, Jacek Malejczyk
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:International Journal of Molecular Sciences
Subjects:
hair follicles
<i>ABCA4</i> gene mutations
Stargardt disease
<i>ABCA4</i> retinopathies
molecular analysis
splice-site variants
Online Access:https://www.mdpi.com/1422-0067/21/10/3430

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https://www.mdpi.com/1422-0067/21/10/3430

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