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Tyrosinase gene mutations in oculocutaneous albinism

โœ Scribed by RichardA. King; Jacy Pietsch; JamesP. Fryer; Sarah Savage; MarciaJ. Brott; Isabelle Russell-Eggitt; C.Gail Summers; WilliamS. Oetting

Book ID
106133868
Publisher
Springer
Year
2003
Tongue
English
Weight
373 KB
Volume
113
Category
Article
ISSN
0340-6717

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Tyrosinase gene mutations in type I (tyr
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
โœ Tripathi, Ram K. ;Strunk, Kathleen M. ;Giebel, Lutz B. ;Weleber, Richard G. ;Spr ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 811 KB

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 ("