## 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
✦ LIBER ✦
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
✍ Scribed by Rimoldi, Valeria; Straniero, Letizia; Asselta, Rosanna; Mauri, Lucia; Manfredini, Emanuela; Penco, Silvana; Gesu, Giovanni P.; Del Longo, Alessandra; Piozzi, Elena; Soldà, Giulia; Primignani, Paola
- Book ID
- 121752560
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 414 KB
- Volume
- 537
- Category
- Article
- ISSN
- 0378-1119
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