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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537634/
https://www.ncbi.nlm.nih.gov/pubmed/22734612
http://dx.doi.org/10.1186/1750-1172-7-44

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