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Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

โœ Scribed by Rooryck, Caroline ;Roudaut, Christel ;Robine, Eulalie ;Musebeck, Jorg ;Arveiler, Benoit

Book ID
111259983
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
140 KB
Volume
19
Category
Article
ISSN
0893-5785

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P gene mutations associated with oculocu
P gene mutations associated with oculocutaneous albinism type II (OCA2)
โœ William S. Oetting; Sarah Savage Garrett; Marcia Brott; Richard A. King ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 49 KB

## Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domain