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The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 981 - 988
Journal Article
Zhonghua Shiyan Yanke Zazhi/Chinese Journal of Experimental Ophthalmology, ISSN 2095-0160, 10/2016, Volume 34, Issue 10, pp. 905 - 909
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 1995, Volume 56, Issue 6, pp. 1320 - 1323
Journal Article
ANNALES DE PEDIATRIE, ISSN 0066-2097, 09/1992, Volume 39, Issue 7, pp. 409 - 418
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eves. Ocular involvement is often severe with... 
ALBINISM | PEDIATRICS | OCULOCUTANEOUS ALBINISM | HYPOPIGMENTATION | HYPOMELANOSIS | Diagnosis, Differential | Phenotype | Albinism, Oculocutaneous - diagnosis | Albinism, Oculocutaneous - genetics | Humans | Genetic Counseling | Albinism, Oculocutaneous - classification | Melanins - biosynthesis
Journal Article
Molecular Biology and Medicine, ISSN 0735-1313, 1991, Volume 8, Issue 1, pp. 19 - 29
Type I oculocutaneous albinism (OCA) is produced by mutations of the tyrosinase gene. We report four new missense mutations in the tyrosinase gene in patients... 
Amino Acid Sequence | Albinism, Oculocutaneous - metabolism | Exons | Humans | Molecular Sequence Data | Albinism, Oculocutaneous - classification | Melanins - biosynthesis | DNA - genetics | DNA Mutational Analysis | Albinism, Oculocutaneous - genetics | Base Sequence | Polymerase Chain Reaction | Monophenol Monooxygenase - genetics
Journal Article
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