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Common Variants in the <i>TYR</i> Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

<b>Background:</b> oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the <i>TYR</i> gene, accounting for approximately 40–50% of all cases of the disease in European p...

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Hlavní autoři: Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2024-10-01
Edice:Biomedicines
Témata:
oculocutaneous albinism
<i>TYR</i>
hypomorphic variants
On-line přístup:https://www.mdpi.com/2227-9059/12/10/2234
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