(Q80181353)
Statements
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa (English)
Silvia Stojanov
Peter Lohse
Pia Lohse
Florian Hoffmann
Ellen D Renner
Stephanie Zellerer
Anja Kéry
Yoon S Shin
Dorothea Haas
Georg F Hoffmann
Bernd H Belohradsky