Condition: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1


rs121918166 in OCA2 gene and SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.