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]
Producer: 20040316Description: 176-84 p. digitalISSN:- 1420-4096
- 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
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Publication Type: Journal Article
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