Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)

Bibliographic Details
Main Authors: Messer, Laurent, Alsaleh, Ghada, Georgel, Philippe, Carapito, Raphael, Waterham, Hans R, Dali-Youcef, Nassim, Bahram, Siamak, Sibilia, Jean
Format: Online
Language:English
Published: BMJ Publishing Group 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785531/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785531/

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