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本文引用的文献

1
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.通过全外显子组测序在因纽特人中鉴定出导致Ⅲa型糖原贮积病的奠基者AGL突变：病例系列
CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.
2
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.先天性蔗糖酶-异麦芽糖酶缺乏症：一种常见的因纽特人始祖突变的鉴定
CMAJ. 2015 Feb 3;187(2):102-107. doi: 10.1503/cmaj.140657. Epub 2014 Dec 1.
3
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.加拿大 FORGE 联盟：一项为期两年的全国罕见病基因发现项目的结果。
Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003.
4
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.患有林奇综合征的纽芬兰大家族中三种MSH2基因突变的表型表达。
Fam Cancer. 2007;6(1):1-12. doi: 10.1007/s10689-006-0014-8.
5
Family history: the three-generation pedigree.家族史：三代系谱。
Am Fam Physician. 2005 Aug 1;72(3):441-8.
6
Genomic medicine for underserved minority populations in family medicine.面向家庭医学中服务不足的少数族裔群体的基因组医学。
Am Fam Physician. 2005 Aug 1;72(3):386-7.
7
Glycogen storage disease type III in Inuit children.因纽特儿童的III型糖原贮积病
CMAJ. 2005 Feb 1;172(3):355-8. doi: 10.1503/cmaj.1031589.
8
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.克里脑白质病和CACH/VWM病在EIF2B5基因座上等位。
Ann Neurol. 2002 Oct;52(4):506-10. doi: 10.1002/ana.10339.
9
HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.HNF-1α G319S是一种转录激活缺陷型突变体，与奥吉-克里族社区糖尿病发病动态的改变有关。
Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4614-9. doi: 10.1073/pnas.062059799. Epub 2002 Mar 19.
10
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.北美哈特派信徒（加拿大和美国）中的肝肉碱棕榈酰转移酶1（CPT1 A）缺乏症：奠基者效应的证据及基于DNA的新生儿筛查项目的初步研究结果
Mol Genet Metab. 2001 May;73(1):55-63. doi: 10.1006/mgme.2001.3149.

Old meets new: identifying founder mutations in genetic disease.

作者信息

Evans Jane A

机构信息

Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Man.

出版信息

CMAJ. 2015 Feb 3;187(2):93-94. doi: 10.1503/cmaj.141509. Epub 2015 Jan 19.

DOI:10.1503/cmaj.141509
PMID:25602001
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4312142/
Abstract
摘要