Lysosomal vesicles, giant granules, and erythrophagocytosis in chédiak-higashi syndrome.
作者信息
Beken Burçin, Unal Sule, Gümrük Fatma
机构信息
Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey.
出版信息
Turk J Haematol. 2014 Jun;31(2):209-10. doi: 10.4274/tjh.2013.0210. Epub 2014 Jun 10.
Abstract
摘要
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本文引用的文献
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.RAB27A基因的突变会导致与噬血细胞综合征相关的格里塞利综合征。
Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024.
2
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.切迪阿克-希加综合征的临床、分子及细胞生物学方面
Mol Genet Metab. 1999 Oct;68(2):283-303. doi: 10.1006/mgme.1999.2927.
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Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.伴有免疫缺陷的部分白化病：格里谢利综合征：1例报告并文献复习
J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7.
4
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.人类和小鼠中Chediak-Higashi综合征基因两种主要mRNA亚型突变的鉴定。
Hum Mol Genet. 1997 Jul;6(7):1091-8. doi: 10.1093/hmg/6.7.1091.
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