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 (
Identification of missense, nonsense, and deletion mutations in theGRHPRgene in patients with primary hyperoxaluria type
β Scribed by Kylie E. Webster; Patrick M. Ferree; Ross P. Holmes; Scott D. Cramer
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 238 KB
- Volume
- 107
- Category
- Article
- ISSN
- 0340-6717
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