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The Réunion paradox and the digenic model.

作者信息

Beckmann J S

出版信息

Am J Hum Genet. 1996 Dec;59(6):1400-2.

PMID:8940289
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914887/
Abstract
摘要

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本文引用的文献

1
Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.脊髓性肌萎缩症无症状携带者中生存运动神经元(SMNT)基因缺失的特征分析。
Hum Mol Genet. 1996 Mar;5(3):359-65. doi: 10.1093/hmg/5.3.359.
2
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.加拿大原住民家族中的肢带型肌营养不良症和三好性肌病与LGMD2B相关,并与相同的单倍型分离。
Am J Hum Genet. 1996 Oct;59(4):872-8.
3
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.常染色体隐性遗传性脊髓性肌萎缩症5q13染色体上候选基因的分子分析:未患病个体中SMN基因纯合缺失的证据。
Hum Mol Genet. 1995 Oct;4(10):1927-33. doi: 10.1093/hmg/4.10.1927.
4
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.通过次要遗传因素调节囊性纤维化跨膜传导调节因子缺陷小鼠的疾病严重程度。
Nat Genet. 1996 Mar;12(3):280-7. doi: 10.1038/ng0396-280.
5
Seeing double: appreciating genetic redundancy.看到双重现象:认识基因冗余。
Plant Cell. 1995 Sep;7(9):1347-56. doi: 10.1105/tpc.7.9.1347.
6
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?
Am J Hum Genet. 1996 Jan;58(1):241-3.
7
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.以色列德鲁兹族和穆斯林阿拉伯患者中Hurler综合征的分子分析:小地理区域内艾杜糖醛酸酶(IDUA)基因的多个等位基因突变
Am J Hum Genet. 1993 Aug;53(2):330-8.
8
Thinking about genetic redundancy.思考基因冗余。
Trends Genet. 1993 Nov;9(11):395-9. doi: 10.1016/0168-9525(93)90140-d.
9
Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.遗传性磷酸丙糖异构酶(TPI)缺乏症:两名严重受影响的兄弟,其中一名有神经症状,另一名没有。
Hum Genet. 1993 Nov;92(5):486-90. doi: 10.1007/BF00216456.
10
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.中央轴空病和恶性高热中兰尼碱受体基因的突变。
Nat Genet. 1993 Sep;5(1):51-5. doi: 10.1038/ng0993-51.