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Temperature-Sensitive Type I Oculocutaneous Albinism
mutation in tyrosinase
Also Known As:
Albinism, Oculocutaneous, Type I, Temperature-Sensitive; OCA1TS
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Eye Diseases: 3522
Hereditary Eye Diseases: 18
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Errors Amino Acid Metabolism: 1
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Genetic Skin Diseases: 47
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Hereditary Eye Diseases: 18
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Skin and Connective Tissue Diseases
Skin Diseases: 13127
Pigmentation Disorders: 149
Hypopigmentation: 836
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Genetic Skin Diseases: 47
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Inborn Errors Metabolism: 1162
Inborn Errors Amino Acid Metabolism: 1
Albinism: 486
Oculocutaneous Albinism: 361
Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Temperature-Sensitive Type I Oculocutaneous Albinism:
1.
Monophenol Monooxygenase (Tyrosinase)
IBA
03/01/1991 - "
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism.
"