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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Article
Mynediad Ar-lein: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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