Abstract
Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.
Original language | English |
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Pages (from-to) | 127-129 |
Number of pages | 3 |
Journal | Human Molecular Genetics |
Volume | 1 |
Issue number | 2 |
Publication status | Published - May 1992 |
ASJC Scopus subject areas
- Genetics
- Statistics, Probability and Uncertainty
- Applied Mathematics
- Public Health, Environmental and Occupational Health
- Molecular Biology
- Genetics(clinical)