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missense mutations
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Homozygous missense mutation in SLC 12A3 gene caused Gitelmanś syndrome with chondrocalcinosis
Publication
7 people
Abstract
Gitelmanś syndrome, SLC12A3 gene, chondrocalcinosis
People
person
prof. MUDr. Vladimír Tesař MBA, DrSc.
First Faculty of Medicine
person
Ing. Jitka Štekrová
First Faculty of Medicine
person
prof. MUDr. Miroslav Merta CSc.
First Faculty of Medicine
person
doc. MUDr. Jana Reiterová Ph.D.
First Faculty of Medicine
person
prof. MUDr. Romana Ryšavá CSc.
First Faculty of Medicine
person
RNDr. Markéta Urbanová Ph.D.
First Faculty of Medicine
person
Otto Schück
Person without faculty affiliation