微卫星标记作为赫曼斯基-皮德拉克综合征（Hermansky-Pudlak syndrome）自同基因定位的快速方法：在一个晚年发病的患者中鉴定第二个 HPS7 突变。
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
出版信息
Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31.
Abstract
The use of microsatellite markers provides a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life
摘要
微卫星标记的使用为Hermansky-Pudlak 综合征的同系基因定位提供了一种快速方法：在一个晚年发病的患者中鉴定第二个 HPS7 突变
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Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.微卫星标记作为赫曼斯基-皮德拉克综合征（Hermansky-Pudlak syndrome）自同基因定位的快速方法：在一个晚年发病的患者中鉴定第二个 HPS7 突变。
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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).7型赫尔曼斯基-普德拉克综合征（HPS-7）是由溶酶体相关细胞器生物合成复合体1（BLOC-1）成员dysbindin突变引起的。
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