A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. [electronic resource]
Producer: 19941010Description: 386-90 p. digitalISSN:- 1059-7794
- Adenine Nucleotides -- genetics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Collagen -- genetics
- DNA Mutational Analysis
- DNA Primers
- DNA, Single-Stranded -- analysis
- Female
- Frameshift Mutation
- Humans
- Male
- Molecular Sequence Data
- Nephritis, Hereditary -- genetics
- Nucleic Acid Conformation
- Nucleic Acid Heteroduplexes
- Pedigree
- Polymorphism, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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