[Compound heterocygosis for intron 9 + 1 g > T and Leu850pro mutations in the SLC12A3 gene in Gitelman's syndrome].
García Pérez
A
A
Coto
E
E
Santos
F
F
Olea
T
T
Caramelo
C
C
D000328:Adult; D053579:Gitelman Syndrome / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011955:Receptors, Drug / Q000235:genetics*; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics*
D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters