Associated Papers
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Liu T et al.
Pigment Cell & Melanoma Research, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei A et al.
Pigment Cell & Melanoma Research, 2019
Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.
Zhao H et al.
Human Mutation, 2018
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
Wei AH et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH et al.
Pigment Cell & Melanoma Research, 2013
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A et al.
Journal of Dermatological Science, 2011
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
Wei A et al.
Journal of Dermatological Science, 2009
Select a paper to view details