Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.
Tosetto
E
E
Ceol
M
M
Mezzabotta
F
F
Ammenti
A
A
Peruzzi
L
L
Caruso
M R
MR
Barbano
G
G
Vezzoli
G
G
Colussi
G
G
Vergine
G
G
Giordano
M
M
Glorioso
N
N
Degortes
S
S
Soldati
L
L
Sayer
J
J
D'Angelo
A
A
Anglani
F
F
D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D020121:5' Untranslated Regions; C097503:CLC-5 chloride channel; D018118:Chloride Channels