Multiple mutations in a specific gene in a small geographic area: a common phenomenon?
作者信息
Zlotogora J, Gieselmann V, Bach G
出版信息
Am J Hum Genet. 1996 Jan;58(1):241-3.
Abstract
摘要
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Multiple mutations in a specific gene in a small geographic area: a common phenomenon?小地理区域内特定基因的多个突变：一种常见现象？
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本文引用的文献
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Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.为什么有些遗传疾病很常见？通过对珠蛋白基因变异进行分子分析来区分选择与其他过程。
Hum Genet. 1993 Mar;91(2):91-117. doi: 10.1007/BF00222709.
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Consanguineous matings in an Israeli-Arab community.以色列阿拉伯社区中的近亲通婚。
Arch Pediatr Adolesc Med. 1994 Apr;148(4):412-5. doi: 10.1001/archpedi.1994.02170040078013.
3
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.多种突变导致了一个小地理区域内异染性脑白质营养不良的高发病率。
Am J Hum Genet. 1995 Jan;56(1):51-7.
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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.蛋白水解酶钙蛋白酶3的突变会导致2A型肢带型肌营养不良症。
Cell. 1995 Apr 7;81(1):27-40. doi: 10.1016/0092-8674(95)90368-2.
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Jewish diseases and origins.犹太疾病与起源。
Nat Genet. 1995 Feb;9(2):99-101. doi: 10.1038/ng0295-99.
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Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.一个族群隔离群体中遗传病的演变：库尔德斯坦犹太人中的β地中海贫血
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