Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Albinism and HPS4[original query] |
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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. The Journal of investigative dermatology 2008 Oct 128 (10): 2442-50. Hutton Saunie M, Spritz Richard |
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment cell & melanoma research 2018 11 32 (3): 373-380. Wei Aihua, Yuan Yefeng, Qi Zhan, Liu Teng, Bai Dayong, Zhang Yingzi, Yu Jiaying, Yang Lin, Yang Xiumin, Li W |
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet journal of rare diseases 2019 2 14 (1): 52. Power Bradley, Ferreira Carlos R, Chen Dong, Zein Wadih M, O'Brien Kevin J, Introne Wendy J, Stephen Joshi, Gahl William A, Huizing Marjan, Malicdan May Christine V, Adams David R, Gochuico Bernadette |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
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- Page last updated:Apr 22, 2024
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