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Volumn 61, Issue 5, 1997, Pages 1088-1094

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; ETHNOLOGY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; LIPOFUSCINOSIS; MALE; NORTHERN BLOTTING; OCULOCUTANEOUS ALBINISM; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PUERTO RICO; THROMBOCYTE DISORDER;

EID: 0030782362     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301611     Document Type: Article
Times cited : (62)

References (19)
  • 1
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    • Bailin T, Oh J, Feng GH, Fukai K, Spritz RA (1997) Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108: 923-927
    • (1997) J Invest Dermatol , vol.108 , pp. 923-927
    • Bailin, T.1    Oh, J.2    Feng, G.H.3    Fukai, K.4    Spritz, R.A.5
  • 2
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    • Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron
    • Feng GH, Bailin T, Oh J, Spritz RA (1997) Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 6: 793-797
    • (1997) Hum Mol Genet , vol.6 , pp. 793-797
    • Feng, G.H.1    Bailin, T.2    Oh, J.3    Spritz, R.A.4
  • 3
    • 0018751404 scopus 로고
    • Hermansky-Pudlak syndrome: Pulmonary manifestations of a ceroid storage disorder
    • Garay SM, Gardella JE, Fazzini EP, Goldring RM (1979) Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder. Am J Med 66:737-747
    • (1979) Am J Med , vol.66 , pp. 737-747
    • Garay, S.M.1    Gardella, J.E.2    Fazzini, E.P.3    Goldring, R.M.4
  • 5
    • 0028407912 scopus 로고
    • Pathogenesis of pulmonary fibrosis: Platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome
    • Harmon KR, Witkop CJ, White JG, King RA, Peterson M, Moore D, Tashjian J, et al (1994) Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 123:617-627
    • (1994) J Lab Clin Med , vol.123 , pp. 617-627
    • Harmon, K.R.1    Witkop, C.J.2    White, J.G.3    King, R.A.4    Peterson, M.5    Moore, D.6    Tashjian, J.7
  • 6
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky F, Pudlak P (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14:162-169
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 8
    • 0000228425 scopus 로고
    • Disorders of peroxisome biogenesis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Lazarow PB, Moser HW (1995) Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. Vol 2. McGraw-Hill, New York, pp 2287-2324
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , vol.2 , pp. 2287-2324
    • Lazarow, P.B.1    Moser, H.W.2
  • 9
    • 0019364268 scopus 로고
    • The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency
    • Novak EK, Hui S-W, Swank RT (1981) The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57:38-43
    • (1981) Blood , vol.57 , pp. 38-43
    • Novak, E.K.1    Hui, S.-W.2    Swank, R.T.3
  • 10
    • 0021321231 scopus 로고
    • Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci
    • _ (1984) Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci. Blood 63:536-544
    • (1984) Blood , vol.63 , pp. 536-544
  • 11
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J-i, Frenk E, et al (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3    Feng, G.H.4    Ho, L.5    Mao, J.-I.6    Frenk, E.7
  • 17
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    • Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
    • Witkop CJ, Krumwiede M, Sedano H, White JG (1987a) Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 26: 305-311
    • (1987) Am J Hematol , vol.26 , pp. 305-311
    • Witkop, C.J.1    Krumwiede, M.2    Sedano, H.3    White, J.G.4
  • 19
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    • Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome: Indicator of lysosomal dysfunction
    • Witkop CJ, Wolfe LS, Cal SX, White JG, Townsend D, Keenan KM (1987b) Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome: indicator of lysosomal dysfunction. Am J Med 82:463-470
    • (1987) Am J Med , vol.82 , pp. 463-470
    • Witkop, C.J.1    Wolfe, L.S.2    Cal, S.X.3    White, J.G.4    Townsend, D.5    Keenan, K.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.