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Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).

AuthorsYoshinori Miyamura, Ishwar C Verma, Renu Saxena, Michiko Hoshi, Ayumi Murase, Eriko Nakamura, Michihiro Kono, Tamio Suzuki, Satoshi Yasue, Shin-Ichi Shibata, Akihiro Sakakibara, Yasushi Tomita
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 125 Issue 2 Pg. 397-8 (Aug 2005) ISSN: 0022-202X [Print] United States
PMID16098056 (Publication Type: Case Reports, Letter)
Chemical References
  • Monophenol Monooxygenase
Topics
  • Adult
  • Albinism, Oculocutaneous (genetics)
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Humans
  • India
  • Infant
  • Japan
  • Male
  • Monophenol Monooxygenase (genetics)
  • Point Mutation

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