Title : A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.

Pub. Date : 2014 Jun

PMID : 25852896






4 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 GS is caused by mutations in the SLC12A3 gene encoding the Na(+)-Cl(-) co-transporter of the distal convoluted tubule (NCCT) and tends to be associated with a milder salt-losing phenotype. Salts solute carrier family 12 member 3 Homo sapiens
2 GS is caused by mutations in the SLC12A3 gene encoding the Na(+)-Cl(-) co-transporter of the distal convoluted tubule (NCCT) and tends to be associated with a milder salt-losing phenotype. Salts solute carrier family 12 member 3 Homo sapiens
3 We describe two female siblings presenting in infancy with a severe salt-losing tubulopathy and failure to thrive due to compound heterozygous mutations in the SLC12A3 gene encoding the NCCT. Salts solute carrier family 12 member 3 Homo sapiens
4 We describe two female siblings presenting in infancy with a severe salt-losing tubulopathy and failure to thrive due to compound heterozygous mutations in the SLC12A3 gene encoding the NCCT. Salts solute carrier family 12 member 3 Homo sapiens