Old meets new: identifying founder mutations in genetic disease. - Wikidata - wikimedia - TriplyDB

Old meets new: identifying founder mutations in genetic disease.

Old meets new: identifying founder mutations in genetic disease.

http://www.wikidata.org/entity/Q35032386

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Old meets new: identifying founder mutations in genetic disease.

http://www.wikidata.org/entity/Q35032386

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2015 nî lūn-bûn

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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Old meets new: identifying founder mutations in genetic disease.

@ast

Old meets new: identifying founder mutations in genetic disease.

@en

type

label

Old meets new: identifying founder mutations in genetic disease.

@ast

Old meets new: identifying founder mutations in genetic disease.

@en

prefLabel

Old meets new: identifying founder mutations in genetic disease.

@ast

Old meets new: identifying founder mutations in genetic disease.

@en

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Canadian Medical Association Journal

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Old meets new: identifying founder mutations in genetic disease.

@en

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Jane A Evans

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P2860

Study of a single BRCA2 mutation with high carrier frequency in a small population

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

Glycogen storage disease type III in Inuit children

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Family history: the three-generation pedigree.

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.

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93-94

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scholarly article

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10.1503/CMAJ.141509

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2

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187

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2015-01-19T00:00:00Z

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25602001

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4312142

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