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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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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	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.
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	2013
Θέματα:	Article
Διαθέσιμο Online:	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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DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

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