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