Investigation of a case of oculocutaneous albinism.
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.
D000328:Adult; D000417:Albinism / Q000201:enzymology; D004156:Catechol Oxidase / Q000378:metabolism; D002395:Catecholamines / Q000652:urine; D004295:Dihydroxyphenylalanine / Q000378:metabolism / Q000494:pharmacology; D005123:Eye; D006056:Golgi Apparatus / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008543:Melanins / Q000378:metabolism; D008544:Melanocytes / Q000648:ultrastructure; D008750:Methyldopa / Q000494:pharmacology; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D012867:Skin / Q000201:enzymology / Q000648:ultrastructure; D012880:Skin Pigmentation / Q000187:drug effects / Q000528:radiation effects; D014466:Ultraviolet Rays
D002395:Catecholamines; D008543:Melanins; D008750:Methyldopa; D004295:Dihydroxyphenylalanine; D004156:Catechol Oxidase