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Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

✍ Scribed by Laila Zahed; Hala Zahreddine; Baha’ Noureddine; Nelly Rebeiz; Nadine Shakar; Pierre Zalloua; Fadi Haddad


Book ID
106251893
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
135 KB
Volume
50
Category
Article
ISSN
1435-232X

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Molecular basis of type I (tryrosinase-r
✍ William S. Oetting; Richard A. King 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 522 KB

## Communicated by David Vale Type I (tyrosinase related) oculocutaneous albinism (OCA) results from mutations of the tyrosinase gene on chromosome 1 l q that lead to reduced or absent melanin pigment synthesis. The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate red