Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

• Main Authors: Qi Yang (Author), Sheng Yi (Author), Mengting Li (Author), Bobo Xie (Author), Jinsi Luo (Author), Jin Wang (Author), Xiuliang Rong (Author), Qinle Zhang (Author), Zailong Qin (Author), Limei Hang (Author), Shihan Feng (Author), Xin Fan (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However...