Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study-Reference-Cited by-同舟云学术

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study

Published:2001-12 Issue:8 Volume:24 Page:833-842
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Tonetti C.¹,Amiel J.²,Munnich A.²,Zittoun J.¹

Affiliation:

1. ; Service d'Hématologie Biologique; Hôpital Henri Mondor; Creteil, Paris France

2. Unité de Génétique; Clinique Inserm U393, Hôpital Necker Enfants; Malades, Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1013988123902/fullpdf

Reference19 articles.

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2. Methylenetetrahydrofolate reductase thermolabile variant and human longevity;Faure-Delanef;Am J Hum Genet,1997

3. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase;Frosst;Nature Genetics,1995

4. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification;Goyette;Nature Genetics,1994

5. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency;Goyette;Am J Hum Genet,1995

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