We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 (
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene
β Scribed by Doroti Pirulli; Daniela Puzzer; Laura Ferri; Sergio Crovella; A. Amoroso; Cristina Ferrettini; Martino Marangella; Gina Mazzola; Fiorella Florian
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 156 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0340-6717
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