Associated Papers
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S et al.
The Journal of Investigative Dermatology, 2005
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.
Corral J et al.
Haematologica, 2004
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M et al.
Traffic (copenhagen, Denmark), 2000
Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.
Spritz RA
Pigment Cell Research, 2000
HPS gene mutations in Hermansky-Pudlak syndrome.
Spritz RA et al.
American Journal of Human Genetics, 1999
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J et al.
American Journal of Human Genetics, 1998
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
Bailin T et al.
The Journal of Investigative Dermatology, 1997
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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