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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 and Weber, Bernhard H. F. (1999) Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Human Genetics 105 (3), pp. 200-210.

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Abstract

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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Item type:Article
Date:September 1999
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s004399900104DOI
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35273
Owner only: item control page
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