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Five Novel Mutations in Tyrosinase Gene of Japanese and Indian Patients with Oculocutaneous Albinism Type I (OCA1)

✍ Scribed by Miyamura, Yoshinori ;Verma, Ishwar C. ;Saxena, Renu ;Hoshi, Michiko ;Murase, Ayumi ;Nakamura, Eriko ;Kono, Michihiro ;Suzuki, Tamio ;Yasue, Satoshi ;Shibata, Shin-Ichi ;Sakakibara, Akihiro ;Tomita, Yasushi

Book ID: 110733563
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 41 KB
Volume: 125
Category: Article
ISSN: 0022-202X
DOI: 10.1111/j.0022-202x.2005.23815.x

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Q p e I (tyrosinase-deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase-negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB ("