A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function.
Demedts
Maurits
M
Lissens
Willy
W
Wuyts
Wim
W
Matthijs
Gert
G
Thomeer
Michiel
M
Bouillon
Roger
R
D002118:Calcium / Q000652:urine; D006098:Granulocytes / Q000502:physiology*; D006801:Humans; D006934:Hypercalcemia / Q000453:epidemiology* / Q000652:urine; D017563:Lung Diseases, Interstitial / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
D044169:Receptors, Calcium-Sensing; D002118:Calcium