Ludwig, Michael

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. [electronic resource] - Kidney & blood pressure research 2003 - 176-84 p. digital

Publication Type: Journal Article

1420-4096

10.1159/000071883 doi


Adult
Amino Acid Sequence
Chloride Channels--genetics
DNA--genetics
DNA Mutational Analysis
Databases, Genetic
Exons--genetics
Fanconi Syndrome--genetics
Genetic Diseases, X-Linked--genetics
Humans
Introns--genetics
Kidney--metabolism
Male
Molecular Sequence Data
Mutation--genetics
Pedigree
Phenotype
RNA, Messenger--biosynthesis
Syndrome