Hermansky-Pudlak syndrome (HPS) as a genetically heterogeneous disease: Clinical, molecular, and cell biological aspects

被引:1
|
作者
Gahl, WA
Shotelersuk, V
Brantly, M
Huizing, M
Dell'Angelica, EC
Bonifacino, JS
机构
[1] NICHD, Heritable Disorders Branch, NIH, Bethesda, MD USA
[2] NHLBI, Pulm Crit Care Med Branch, NIH, Bethesda, MD 20892 USA
[3] NICHD, Cell Biol & Metab Branch, NIH, Bethesda, MD USA
关键词
D O I
10.1203/00006450-199904020-00821
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
804
引用
收藏
页码:138A / 138A
页数:1
相关论文
共 50 条
  • [1] Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects
    William A Gahl
    Vorasuk Shotelersuk
    Mark Brantly
    Marjan Huizing
    Esteban C Dell'Angelica
    Juan S Bonifacino
    Pediatric Research, 1999, 45 : 138 - 138
  • [2] HPS gene mutations in Hermansky-Pudlak syndrome
    Spritz, RA
    Oh, JS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) : 658 - 659
  • [3] Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Anderson, PD
    Huizing, M
    Claassen, DA
    White, J
    Gahl, WA
    HUMAN GENETICS, 2003, 113 (01) : 10 - 17
  • [4] Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Paul D. Anderson
    Marjan Huizing
    David A. Claassen
    James White
    William A. Gahl
    Human Genetics, 2003, 113 : 10 - 17
  • [5] HERMANSKY-PUDLAK SYNDROME (HPS5) IN A NONAGENARIAN
    Summers, C. Gail
    Schimmenti, Lisa A.
    JOURNAL OF AAPOS, 2014, 18 (02): : 209 - 210
  • [6] Hermansky-Pudlak syndrome (HPS5) in a nonagenarian
    Ringeisen, Alexander L.
    Schimmenti, Lisa A.
    White, James G.
    Schoonveld, Cheri
    Summers, C. Gail
    JOURNAL OF AAPOS, 2013, 17 (03): : 334 - 336
  • [7] HERMANSKY-PUDLAK SYNDROME (HPS) - AN EPIDEMIOLOGIC-STUDY
    WITKOP, CJ
    ALMADOVAR, C
    PINEIRO, B
    BABCOCK, MN
    OPHTHALMIC PAEDIATRICS AND GENETICS, 1990, 11 (03): : 245 - 250
  • [8] Identification of a novel cDNA associated with the Hermansky-Pudlak syndrome (HPS).
    Wildenberg, SC
    Fryer, JP
    Gardner, JM
    Oetting, WS
    Swank, RT
    Brilliant, MH
    King, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A337 - A337
  • [9] The cell biology of Hermansky-Pudlak syndrome
    Helip-Wooley, A
    Dorward, H
    Stanescu, H
    Hess, R
    Westbroek, W
    Boissy, R
    Gahl, WA
    Huizing, M
    MOLECULAR BIOLOGY OF THE CELL, 2004, 15 : 115A - 115A
  • [10] Hermansky-Pudlak syndrome type-4 (HPS-4): Clinical and molecular characteristics.
    Anderson, PD
    Huizing, M
    Lynch, M
    Gahl, WA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 423 - 423