HERMANSKY-PUDLAK SYNDROME (HPS5) IN A NONAGENARIAN

被引：1
|
作者：
Summers, C. Gail [1 ]
Schimmenti, Lisa A. [1 ]
机构：
[1] Univ Minnesota, Minneapolis, MN 55455 USA
来源：
JOURNAL OF AAPOS | 2014年 / 18卷 / 02期
关键词：
D O I：
10.1016/j.jaapos.2014.02.002
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：209 / 210
页数：2
相关论文
共 50 条
  • [1] 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
  • [2] The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene
    Syrzycka, Monika
    McEachern, Lori A.
    Kinneard, Jennifer
    Prabhu, Kristel
    Fitzpatrick, Kathleen
    Schulze, Sandra
    Rawls, John M.
    Lloyd, Vett K.
    Sinclair, Donald A. R.
    Honda, Barry M.
    GENOME, 2007, 50 (06) : 548 - 556
  • [3] Knockout of Hermansky-Pudlak syndrome 5 (hps5) leads to red tilapia with reduced melanophores and iridophores
    Wang, Chenxu
    Kocher, Thomas D.
    Liu, Hao
    Wen, Zilong
    Yao, Jiawen
    Wang, Deshou
    AQUACULTURE, 2024, 582
  • [4] The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5)
    Falcon-Perez, Juan M.
    Romero-Calderon, Rafael
    Brooks, Elizabeth S.
    Krantz, David E.
    Dell'Angelica, Esteban C.
    TRAFFIC, 2007, 8 (02) : 154 - 168
  • [5] HPS gene mutations in Hermansky-Pudlak syndrome
    Spritz, RA
    Oh, JS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) : 658 - 659
  • [6] Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
    Di Pietro, SM
    Falcón-Pérez, JM
    Dell'Angelica, EC
    TRAFFIC, 2004, 5 (04) : 276 - 283
  • [7] Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
    Boeckelmann, Doris
    Wolter, Mira
    Neubauer, Katharina
    Sobotta, Felix
    Lenz, Antonia
    Glonnegger, Hannah
    Kaesmann-Kellner, Barbara
    Mann, Jasmin
    Ehl, Stephan
    Zieger, Barbara
    FRONTIERS IN PHARMACOLOGY, 2022, 12
  • [8] BLOC-2, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS3, HPS5 and HPS6
    Di Pietro, SM
    Falcon-Perez, JM
    Dell'Angelica, EC
    MOLECULAR BIOLOGY OF THE CELL, 2004, 15 : 115A - 115A
  • [9] HERMANSKY-PUDLAK SYNDROME (HPS) - AN EPIDEMIOLOGIC-STUDY
    WITKOP, CJ
    ALMADOVAR, C
    PINEIRO, B
    BABCOCK, MN
    OPHTHALMIC PAEDIATRICS AND GENETICS, 1990, 11 (03): : 245 - 250
  • [10] 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
12345