Article
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
Orphanet journal of rare diseases - 26 Jun 2012
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
Abstract excerpt
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 been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. METHODS: We enrolled...
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