DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 6...

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Detaylı Bibliyografya
Asıl Yazarlar: Simeonov, Dimitre R., Wang, Xinjing, Wang, Chen, Sergeev, Yuri, Dolinska, Monika, Bower, Matthew, Fischer, Roxanne, Winer, David, Dubrovsky, Genia, Balog, Joan Z., Huizing, Marjan, Hart, Rachel, Zein, Wadih M., Gahl, William A., Brooks, Brian P., Adams, David R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959784/
https://ncbi.nlm.nih.gov/pubmed/23504663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22315
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