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

• मुख्य लेखकों: Qi Yang (लेखक), Sheng Yi (लेखक), Mengting Li (लेखक), Bobo Xie (लेखक), Jinsi Luo (लेखक), Jin Wang (लेखक), Xiuliang Rong (लेखक), Qinle Zhang (लेखक), Zailong Qin (लेखक), Limei Hang (लेखक), Shihan Feng (लेखक), Xin Fan (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...