Characterization of V71M mutation in the aquaporin-2 gene causing nephrogenic diabetes insipidus.
Bougacha-Elleuch
N
N
Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax route Sidi Mansour, BP 1177, 3018 Sfax, Tunisia.
Lassoued
M Ben
MB
Miled
N
N
Zouari
S
S
Ayadi
H
H
D000293:Adolescent; D019943:Amino Acid Substitution; D051399:Aquaporin 2 / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017433:Protein Structure, Secondary
D051399:Aquaporin 2; D050505:Mutant Proteins