The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase-Reference-Cited by-同舟云学术

The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

Published:2014-04-09 Issue:4 Volume:9 Page:e93852
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Jank Johanna M.,Maier Esther M.,Reiß Dunja D.,Haslbeck Martin,Kemter Kristina F.,Truger Marietta S.,Sommerhoff Christian P.,Ferdinandusse Sacha,Wanders Ronald J.,Gersting Søren W.,Muntau Ania C.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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4. Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, et al. (2010) Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab: 1–7.

5. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation;I Yokota;Journal of clinical investigation,1990

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