The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency-Reference-Cited by-同舟云学术

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The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency

Published:2010-05-25 Issue:9 Volume:88 Page:931-939
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Wamelink Mirjam M. C.,Grüning Nana-Maria,Jansen Erwin E. W.,Bluemlein Katharina,Lehrach Hans,Jakobs Cornelis,Ralser Markus

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-010-0634-1.pdf

Reference22 articles.

1. Schlager G, Dickie MM (1971) Natural mutation rates in the house mouse. Estimates for five specific loci and dominant mutations. Mutat Res 11:89–96

2. Ralser M, Nebel A, Kleindorp R, Krobitsch S, Lehrach H, Schreiber S, Reinhardt R, Timmermann B (2008) Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans. BMC Genet 9:38

3. Schneider AS (2000) Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillières Best Pract Res Clin Haematol 13:119–140

4. Ralser M, Heeren G, Breitenbach M, Lehrach H, Krobitsch S (2006) Triose phosphate isomerase deficiency is caused by altered dimerization—not catalytic inactivity—of the mutant enzymes. PLoS ONE 1:e30

5. Orosz F, Olah J, Ovadi J (2009) Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta 1792:1168–1174

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