Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20...

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Bibliographic Details
Main Authors: Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Katarina Trebušak Podkrajšek
Format: Article
Language:English
Published: Slovenian Chemical Society 2021-09-01
Series:Acta Chimica Slovenica
Subjects:
Online Access:https://journals.matheo.si/index.php/ACSi/article/view/6690