Pigment, platelets, and Hermansky-Pudlak in human and mouse.
作者信息
Erickson R P
机构信息
Angel Charity for Children-Wings for Genetic Research, Steele Memorial Children's Research Center, University of Arizona, Tucson, AZ 85724, USA.
出版信息
Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):8924-5. doi: 10.1073/pnas.94.17.8924.
Abstract
摘要
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本文引用的文献
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VASCULAR PSEUDOHEMOPHILIA ASSOCIATED WITH CEROID PIGMENTOPHAGIA IN ALBINOS.白化病患者中与类蜡质色素吞噬相关的血管性假血友病。
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Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.先天性过氧化物酶颗粒巨大症；首例过氧化物酶质性异常报告。
Tohoku J Exp Med. 1954 Feb 25;59(3):315-32. doi: 10.1620/tjem.59.315.
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[New leukocyte anomaly of constitutional and familial character].[具有体质性和家族性特征的新型白细胞异常]
Rev Hematol. 1952;7(3):362-7.
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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.小鼠淡耳（ep）突变是人类赫尔曼斯基-普德拉克综合征的同源物。
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A new dimension for the human genome project: towards comprehensive expression maps.人类基因组计划的新维度：迈向全面表达图谱
Nat Genet. 1997 Jun;16(2):126-32. doi: 10.1038/ng0697-126.
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Mouse models of human genetic disease: which mouse is more like a man?人类遗传疾病的小鼠模型：哪种小鼠更像人类？
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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.切迪阿克-东综合征完整基因的鉴定与突变分析。
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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.一种细胞质细胞器疾病——赫尔曼斯基-普德拉克综合征相关基因的定位克隆
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Identification of the homologous beige and Chediak-Higashi syndrome genes.同源米色基因和切迪阿克-东综合征基因的鉴定。
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