Molecular and cell biology of primary hyperoxaluria type 1

Author:

Danpure C. J.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Genetics(clinical),Drug Discovery,Molecular Medicine

Reference10 articles.

1. Danpure CJ, Purdue PE (1994) Primary hyperoxaluria. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 7th edn. McGraw-Hill, New York

2. Danpure CJ, Cooper PJ, Wise PJ, Jennings PR (1989) An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase re-routed to mitochondria. J Cell Biol 108:1345?1352

3. Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, Davidson NO (1993) Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisometo-mitochondrion mistargeting and intraperoxisomal aggregation. Am J Hum Genet 53:417?432

4. Danpure CJ, Birdsey GM, Rumsby G, Lumb MJ, Purdue PE, Allsop J (1994) Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene. Hum Genet (in press)

5. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J (1994) Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. J Inher Metab Dis (in press)

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