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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 |
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 |
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 |
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 |
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 |
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 |
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