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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 2, 2023. (Total: 223599Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Mevalonic Aciduria[original query]
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
European journal of human genetics : EJHG 2003 Feb 11 (2): 196-200.
Houten Sander M, van Woerden Christiaan S, Wijburg Frits A, Wanders Ronald J A, Waterham Hans
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Neuro endocrinology letters 2011 1 31 (6): 743-6.
Kovacs Laszlo, Hlavatá Anna, Baldovi? Marián, Paulovicova Ema, Dallos Tomas, Fehérvízyová Zuzana, Kadasi Ludov
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