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Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria

โœ Scribed by Marion B. Coulter-Mackie; Gillian Rumsby; Derek A. Applegarth; Jennifer R. Toone


Book ID
115639895
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
178 KB
Volume
74
Category
Article
ISSN
1096-7192

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๐Ÿ“œ SIMILAR VOLUMES


An intronic duplication in the alanine:
โœ P. Edward Purdue; Michael J. Lumb; Jennifer Allsop; Christopher J. Danpure ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 349 KB

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 (