Records 1 - 6
| Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
BMC medical genetics 2019 Jun 20 (1): 106.
Yang Qi, Yi Sheng, Li Mengting, Xie Bobo, Luo Jinsi, Wang Jin, Rong Xiuliang, Zhang Qinle, Qin Zailong, Hang Limei, Feng Shihan, Fan X
| Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Journal of human genetics 2016 Oct .
Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao
| Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4.
Journal of dermatological science 2015 Jan 77 (1): 21-7.
Kondo Taisuke, Namiki Takeshi, Coelho Sergio G, Valencia Julio C, Hearing Vincent
| Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations.
Legal medicine (Tokyo, Japan) 2011 Jul 13 (4): 215-7.
Yuasa Isao, Harihara Shinji, Jin Feng, Nishimukai Hiroaki, Fujihara Junko, Fukumori Yasuo, Takeshita Haruo, Umetsu Kazuo, Saitou Naru
| Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Molecular vision 2011 17 .
Preising MN, Forster H, Gonser M, Lorenz B
| A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
The Journal of investigative dermatology 2010 Mar 130 (3): 716-24.
Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W