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Investigation of a case of oculocutaneous albinism
Birth Defects Original Article Series
|June 1, 1971
Abstract:
One conclusion reached from a study of a case of tyrosinase negative albinism was that the structure of melanizing apparatus was normal. Its regulation and ability to be stimulated was functionally normal also. The characteristic defect in albinism must be somewhere in the availability or inhibition of tyrosinase based on a genetically induced structural defect of the protein pattern.