From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri
Haifa
H
CHU Grenoble, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.
Rendu
John
J
Monnier
Nicole
N
Coutton
Charles
C
Dorseuil
Olivier
O
Poussou
Rosa Vargas
RV
Baujat
Geneviève
G
Blanchard
Anne
A
Nobili
François
F
Ranchin
Bruno
B
Remesy
Michel
M
Salomon
Rémi
R
Satre
Véronique
V
Lunardi
Joel
J
D018118:Chloride Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D057973:Dent Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D012333:RNA, Messenger; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human