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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Hypopigmentation and HPS6[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
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Pigment cell & melanoma research 2020 Jul .
Liu Teng, Yuan Yefeng, Bai Dayong, Qi Zhan, Yang Lin, Zhang Tianjiao, Yang Xiumin, Li Wei, Wei Aih
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