Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes-Reference-Cited by-同舟云学术

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Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes

Published:2003-07 Issue:1 Volume:26 Page:55-66
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fu X.¹,Rinaldo P.²,Hahn S. H.²,Kodama H.³,Packman S.¹

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics; University of California San Francisco; California

2. ; Biochemical Genetics Laboratory; Mayo Clinic; Rochester Maine USA

3. ; Department of Pediatrics, School of Medicine; Teikyo University; Tokyo Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1024027630589/fullpdf

Reference42 articles.

1. Dopamine-beta-hydroxylase deficiency in humans;Biaggioni;Neurology,1990

2. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts;Burlina;J Pediatr,1994

3. Molecular mechanisms of copper homeostasis;Camakaris;Biochem Biophys Res Commun,1999

4. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nature Genetics,1993

5. Chaperon-facilitated copper binding is the property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants;Corson;Proc Natl Acad Sci USA,1998

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