Associated Papers
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.
Suppiej A et al.
Developmental Medicine and Child Neurology, 2022
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
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM et al.
Annals of Medicine, 2019
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG et al.
American Journal of Medical Genetics. Part A, 2018
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A et al.
Pigment Cell & Melanoma Research, 2016
Select a paper to view details