Associated Papers
Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.
van der Vis JJ et al.
Respirology (carlton, Vic.), 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
Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.
Stearman RS et al.
American Journal of Respiratory and Critical Care Medicine, 2019
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M et al.
Traffic (copenhagen, Denmark), 2000
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Oh J et al.
Nature Genetics, 1996
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