title: MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family.
authors: Shamim B
authors: SB
authors: Saleha
authors: Muhammad
authors: M
authors: Ajaml
authors: Muhammad
authors: M
authors: Jamil
authors: Muhammad
authors: M
authors: Nasir
authors: Abdul
authors: A
authors: Hameed
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1