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Kinase mutations in human disease: interpreting genotype–phenotype relationships

✍ Scribed by Lahiry, Piya; Torkamani, Ali; Schork, Nicholas J.; Hegele, Robert A.


Book ID
109953119
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
598 KB
Volume
11
Category
Article
ISSN
1471-0056

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## Communicated by Johannes Zschocke Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fe