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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

✍ Scribed by A. Imbard; A. Boutron; C. Vequaud; M. Zater; P. de Lonlay; H. Ogier de Baulny; C. Barnerias; M. Miné; C. Marsac; J.-M. Saudubray; M. Brivet

Book ID
116989418
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
868 KB
Volume
104
Category
Article
ISSN
1096-7192

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Fifteen novel mutations in PKLR associat
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✍ Richard van Wijk; Eric G. Huizinga; Annet C.W. van Wesel; Brigitte A. van Oirsch 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 284 KB

Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients f