Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
about
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyMutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto RicoNonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Multi-organellar disorders of pigmentation: tied up in traffic.Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.Hermansky-Pudlak syndrome and related disorders of organelle formation.Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeA divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
P2860
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P2860
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@ast
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@en
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome
@nl
type
label
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@ast
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@en
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome
@nl
prefLabel
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@ast
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@en
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome
@nl
P2093
P1476
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
@en
P2093
P2888
P304
P356
10.1111/1523-1747.EP12294634
P407
P577
1997-06-01T00:00:00Z
P5875
P6179
1012199714