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Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

Passmore, L. ; Kaesmann-Kellner, B. ; Weber, Bernhard H. F.


Albinism is a heterogeneous group of genetic disorders resulting from deficiencies in pigmentation. Clinically, it is divided into ocular (OA) and oculocutaneous albinism (OCA). OCA involves lack of pigment in the skin, hair, and eyes and results from mutations in the tyrosinase gene or in the P gene. OA mainly affects pigmentation in the visual system and may be a mild form of OCA or may be ...


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