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

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

<p>Abstract</p> <p>Background</p> <p>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 <it>TYR</it>, <it>OCA2</it>...

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Bibliographic Details
Main Authors: Jaworek Thomas J, Kausar Tasleem, Bell Shannon M, Tariq Nabeela, Maqsood Muhammad, Sohail Asma, Ali Muhmmmad, Iqbal Furhan, Rasool Shafqat, Riazuddin Saima, Shaikh Rehan S, Ahmed Zubair M
Format: Article
Language:English
Published: BMC 2012-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TYR
OCA2
TYRP1
SLC45A2
SLC24A5
Pakistan
Exon-trapping
Oculocutaneous Albinism
Melanocytes
Hypopigmentation
Online Access:http://www.ojrd.com/content/7/1/44

Internet

http://www.ojrd.com/content/7/1/44

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