Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies
about
Oculocutaneous albinismAssociation of the Hermansky-Pudlak syndrome type-3 protein with clathrin.AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesA germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)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.The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnationGenetic interstitial lung diseaseGenetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto RicoRole of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficienciesA gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2Polyphosphate: an ancient molecule that links platelets, coagulation, and inflammationAssembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous AlbinismDiffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings.Current Strategies in Diagnosis of Inherited Storage Pool DefectsDysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner.Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivoUltrastructural features of abnormal blood platelets. A review.Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumoniaOcular findings in the Hermansky-Pudlak syndrome.Vision in albinism.Genetical aspects of severe visual impairment in childhood.Electrochemical measurement of endogenous serotonin release from human blood platelets.Platelet disorders: a review of disturbances in adhesion, aggregation, and release reaction.Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome.Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo traffickingDefective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.Metazoan cell biology of the HOPS tethering complexEvidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.Adult familial cryptogenic fibrosing alveolitis in the United KingdomClinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndromeUnexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome.Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes
P2860
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P2860
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies
description
1959 nî lūn-bûn
@nan
1959 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1959 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1959年の論文
@ja
1959年論文
@yue
1959年論文
@zh-hant
1959年論文
@zh-hk
1959年論文
@zh-mo
1959年論文
@zh-tw
1959年论文
@wuu
name
Albinism associated with hemor ...... ses with histochemical studies
@ast
Albinism associated with hemor ...... ses with histochemical studies
@en
Albinism associated with hemor ...... ses with histochemical studies
@nl
type
label
Albinism associated with hemor ...... ses with histochemical studies
@ast
Albinism associated with hemor ...... ses with histochemical studies
@en
Albinism associated with hemor ...... ses with histochemical studies
@nl
prefLabel
Albinism associated with hemor ...... ses with histochemical studies
@ast
Albinism associated with hemor ...... ses with histochemical studies
@en
Albinism associated with hemor ...... ses with histochemical studies
@nl
P1433
P1476
Albinism associated with hemor ...... ses with histochemical studies
@en
P2093
P304
P407
P577
1959-02-01T00:00:00Z