scholarly article | Q13442814 |
P2093 | author name string | J G White | |
R A King | |||
W S Oetting | |||
S C Wildenberg | |||
C Almodóvar | |||
M Krumwiede | |||
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Hermansky-Pudlak syndrome (HPS): A proposed block in glutathione peroxidase | Q43413310 | ||
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Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction | Q68816181 | ||
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Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome | Q70368769 | ||
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene | Q70668885 | ||
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Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome | Q72332989 | ||
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P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Hermansky-Pudlak syndrome | Q1506216 |
P304 | page(s) | 755-65 | |
P577 | publication date | 1995-10-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 | |
P478 | volume | 57 |
Q34470405 | Albinism: modern molecular diagnosis |
Q37443271 | Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. |
Q24536172 | Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein |
Q35249888 | Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome |
Q24626239 | Genetic interstitial lung disease |
Q34388954 | Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy |
Q24629069 | Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico |
Q36373332 | Genetic testing in diffuse parenchymal lung disease |
Q44720111 | Hermansky-Pudlak syndrome in pregnancy: A case report |
Q55288445 | Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. |
Q24539375 | Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. |
Q57281789 | Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru |
Q24675801 | Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3 |
Q35129447 | Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking |
Q24538795 | Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity |
Q34514157 | Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). |
Q36034514 | Pigment, platelets, and Hermansky-Pudlak in human and mouse |
Q36560640 | The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome |
Q36087778 | Typing Plasmodium yoelii microsatellites using a simple and affordable fluorescent labeling method |
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