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Article

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Molecular genetics and metabolism - 1 Nov 2001

Coulter-Mackie M B, Rumsby G, Applegarth D A, Toone J R

Abstract excerpt

We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E...

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Source

Identifiers

PMID: 11708860
DOI: 10.1006/mgme.2001.3222

Genes

AGT

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