Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

BACKGROUND: Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has b...

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Detalhes bibliográficos
Main Authors: Jaworek, Thomas J, Kausar, Tasleem, Bell, Shannon M, Tariq, Nabeela, Maqsood, Muhammad Imran, Sohail, Asma, Ali, Muhmmmad, Iqbal, Furhan, Rasool, Shafqat, Riazuddin, Saima, Shaikh, Rehan S, Ahmed, Zubair M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537634/
https://ncbi.nlm.nih.gov/pubmed/22734612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-44
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