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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 11, 2024. (Total: 231368Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Albinism and HPS5[original query]
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Pigment cell & melanoma research 2016 Sep .
Wei Aihua, Yuan Yefeng, Bai Dayong, Ma Jing, Hao Zhenhua, Zhang Yingzi, Yu Jiaying, Zhou Zhiyong, Yang Lin, Yang Xiumin, Li Li, Li W
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Pigment cell & melanoma research 2017 10 31 (2): 318-329.
Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan
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
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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