keyword
MENU ▼
Read by QxMD icon Read
search

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

keyword
https://www.readbyqxmd.com/read/29234874/mmab-a-novel-candidate-gene-to-be-screened-in-the-molecular-diagnosis-of-mevalonate-kinase-deficiency
#1
Massimo Mezzavilla, Ronald Rodrigues Moura, Fulvio Celsi, Paola Maura Tricarico, Sergio Crovella
Mevalonate kinase deficiency (MKD) is an autosomal recessive inflammatory disease. Mutations in MVK gene are associated with MKD with modest genotype-phenotype correlation. In spite of recent guidelines indicating specific MVK mutations for the more severe form or the milder one, little is known about MVK variability within and between populations. The aim of this work is to provide supplementary information about MVK variability useful in the molecular diagnosis of MKD, as well as to unravel the presence of novel genes potentially involved as involved in the clinical heterogeneity of MKD phenotype...
December 12, 2017: Rheumatology International
https://www.readbyqxmd.com/read/16835861/mutational-spectrum-and-genotype-phenotype-correlations-in-mevalonate-kinase-deficiency
#2
Saskia H L Mandey, Marit S Schneiders, Janet Koster, Hans R Waterham
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 fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different mutations including 15 novel mutations, expanding the total mutational spectrum of MKD to 63 mutations. To get more insight into the genotype-phenotype correlation in MKD, we studied the effect of selected missense mutations on MK protein stability and activity in various patient fibroblast cell lines...
August 2006: Human Mutation
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"