|
|||||
|
|
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II |
|
| Authors: | Valeria Rimoldi Letizia Straniero Rosanna Asselta Lucia Mauri Emanuela Manfredini Silvana Penco Giovanni P Gesu Alessandra Del Longo Elena Piozzi Giulia Soldà Paola Primignani |
| Institution: | 1. Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy;2. Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'' Granda Hospital, Milan, Italy;3. Pediatric Ophthalmology Department, Niguarda Ca'' Granda Hospital, Milan, Italy |
| Abstract: | Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene. |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ | |