In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

Claire Browne, David Timson

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)451-459
Number of pages9
JournalAnnals of Human Genetics
Volume79
Issue number6
DOIs
Publication statusPublished - 30 Nov 2015

Bibliographical note

This is the peer reviewed version of the following article: Browne, C. and Timson, D. J. (2015), In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency. Annals of Human Genetics, 79: 451–459, which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/ahg.12126/abstract. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.

Keywords

  • Periodic fever syndrome
  • mevalonic aciduria
  • hyper-immunoglobulin-D syndrome
  • HIDS
  • protein stability
  • disease prediction

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