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A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions in the collagenous domain (in exons 20, 25, 26, 29, 31, and 41), 2 were small deletions resulting in frameshifts (in exons 21 and 31), and one was a splice site mutation (in exon 12).

Original publication

DOI

10.1002/humu.1380050303

Type

Journal article

Journal

Hum Mutat

Publication Date

1995

Volume

5

Pages

197 - 204

Keywords

Base Sequence, Collagen, Exons, Female, Humans, Male, Molecular Sequence Data, Mutation, Nephritis, Hereditary, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA