Molecular and cell biology of primary hyperoxaluria type 1.
作者： C. J. Danpure
DOI: 10.1007/BF00213004
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摘要:
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sci-hub.se 参考文章(9)
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Yohsuke Minatogawa, Shigenobu Tone, Jennifer Allsop, P.Edward Purdue, Yoshikazu Takada, Christopher J. Danpur, Ryo Kido, A serine-to-phenylalanine substitution leads to loss of alanine: glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1 Human Molecular Genetics. ,vol. 1, pp. 643- 644 ,(1992) , 10.1093/HMG/1.8.643
P.Edward Purdue, Michael J. Lumb, Jennifer Allsop, Yohsuke Minatogawa, Christopher J. Danpure, A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. Genomics. ,vol. 13, pp. 215- 218 ,(1992) , 10.1016/0888-7543(92)90225-H
P.Edward Purdue, MichaelJ. Lumb, Jennifer Allsop, ChristopherJ. Danpure, An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. Human Genetics. ,vol. 87, pp. 394- 396 ,(1991) , 10.1007/BF00197154
C. J. Danpure, P. R. Jennings, P. Fryer, P. E. Purdue, J. Allsop, Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. Journal of Inherited Metabolic Disease. ,vol. 17, pp. 487- 499 ,(1994) , 10.1007/BF00711363
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C J Danpure, P J Cooper, P J Wise, P R Jennings, An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. Journal of Cell Biology. ,vol. 108, pp. 1345- 1352 ,(1989) , 10.1083/JCB.108.4.1345
Christopher J. Danpure, Graeme M. Birdsey, Gillian Rumsby, Michael J. Lumb, P. Edward Purdue, Jennifer Allsop, Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene Human Genetics. ,vol. 94, pp. 55- 64 ,(1994) , 10.1007/BF02272842
P E Purdue, Y Takada, C J Danpure, Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. Journal of Cell Biology. ,vol. 111, pp. 2341- 2351 ,(1990) , 10.1083/JCB.111.6.2341