Hermansky-Pudlak/Chediak-Higashi syndromes.
作者信息
Solomons Hilary Denis
机构信息
Johnnesburg, South Africa.
出版信息
Cardiovasc J Afr. 2012 Jul;23(6):312.
Abstract
摘要
相似文献
1
Hermansky-Pudlak/Chediak-Higashi syndromes.赫尔曼斯基-普德拉克综合征/切迪阿克-希加希综合征。
Cardiovasc J Afr. 2012 Jul;23(6):312.
2
Electron-dense chains and clusters in platelets from patients with storage pool-deficiency disorders.储存池缺陷疾病患者血小板中的电子致密链和簇。
J Thromb Haemost. 2003 Jan;1(1):74-9. doi: 10.1046/j.1538-7836.2003.00032.x.
3
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.赫尔曼斯基-普德拉克综合征和切迪雅克-希加什综合征：囊泡形成与运输障碍
Thromb Haemost. 2001 Jul;86(1):233-45.
4
Lytic granules, secretory lysosomes and disease.溶细胞颗粒、分泌性溶酶体与疾病。
Curr Opin Immunol. 2003 Oct;15(5):516-21. doi: 10.1016/s0952-7915(03)00113-4.
5
Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation.苍白耳小鼠（Hermansky-Pudlak综合征1型模型）和米色小鼠（Chediak-Higashi综合征模型）的肺部病理学：II型肺细胞巨大板层小体变性的严重程度与间质性炎症相关。
Pathol Int. 2005 Mar;55(3):137-43. doi: 10.1111/j.1440-1827.2005.01811.x.
6
[Hypomelanoses transmitted from generation to generation].[代代相传的色素减退症]
Postepy Hig Med Dosw (Online). 2014 Sep 3;68:1081-90. doi: 10.5604/17322693.1119791.
7
Molecular defects that affect platelet dense granules.影响血小板致密颗粒的分子缺陷。
Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674.
8
Molecular determinants of platelet delta storage pool deficiencies: an update.血小板δ储存池缺陷的分子决定因素：更新。
Br J Haematol. 2013 Jan;160(1):5-11. doi: 10.1111/bjh.12064. Epub 2012 Oct 1.
9
Syndromic albinism: a review of genetics and phenotypes.综合征性白化病：遗传学与表型综述
Dermatol Online J. 2003 Dec;9(5):5.
10
Delivering the kiss of death.送上死亡之吻。
Nat Immunol. 2003 May;4(5):399-403. doi: 10.1038/ni0503-399.
本文引用的文献
1
The clinical spectrum of albinism in humans.
Mol Med Today. 1996 Aug;2(8):330-5. doi: 10.1016/1357-4310(96)81798-9.
2
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
Hum Mol Genet. 1995 Sep;4(9):1665-9. doi: 10.1093/hmg/4.9.1665.
3
A human pigmentary dilution based on a heritable subcellular structural defect--the Chediak-Higashi syndrome.一种基于遗传性亚细胞结构缺陷的人类色素稀释——切-东综合征。
J Invest Dermatol. 1968 Jan;50(1):9-18. doi: 10.1038/jid.1968.2.
Zotero 插件