Hermansky-Pudlak syndrome: the importance of molecular subtyping.
作者信息
Thielen N, Huizing M, Krabbe J G, White J G, Jansen T J, Merle P A, Gahl W A, Zweegman S
出版信息
J Thromb Haemost. 2010 Jul;8(7):1643-5. doi: 10.1111/j.1538-7836.2010.03898.x. Epub 2010 Apr 30.
Abstract
摘要
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Haematologica. 2010 Feb;95(2):333-7. doi: 10.3324/haematol.2009.012286. Epub 2009 Aug 13.
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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.溶酶体相关细胞器生物发生障碍：临床与分子遗传学
Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303.
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Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.赫尔曼斯基-普德拉克综合征：一种蛋白质运输与细胞器功能异常的疾病。
Pigment Cell Res. 2006 Feb;19(1):19-42. doi: 10.1111/j.1600-0749.2005.00289.x.
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Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.波多黎各1型和2型眼皮肤白化病以及1型和3型Hermansky-Pudlak综合征突变的基因检测。
J Invest Dermatol. 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034.
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Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.衔接蛋白3依赖的微管介导的裂解颗粒向免疫突触的移动。
Nat Immunol. 2003 Nov;4(11):1111-20. doi: 10.1038/ni1000. Epub 2003 Oct 19.
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Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.吡非尼酮对Hermansky-Pudlak综合征肺纤维化的影响。
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