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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1995 | 1 |
1999 | 1 |
2001 | 1 |
2004 | 1 |
2010 | 1 |
2012 | 1 |
2024 | 0 |
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6 results
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Page 1
Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.
J Biol Chem. 2004 Jul 16;279(29):29871-4. doi: 10.1074/jbc.R400005200. Epub 2004 Apr 15.
J Biol Chem. 2004.
PMID: 15087459
Free article.
Review.
No abstract available.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD, Cox DR.
Kruger WD, et al.
Hum Mol Genet. 1995 Jul;4(7):1155-61. doi: 10.1093/hmg/4.7.1155.
Hum Mol Genet. 1995.
PMID: 8528202
Item in Clipboard
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
Shan X, Dunbrack RL Jr, Christopher SA, Kruger WD.
Shan X, et al.
Hum Mol Genet. 2001 Mar 15;10(6):635-43. doi: 10.1093/hmg/10.6.635.
Hum Mol Genet. 2001.
PMID: 11230183
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Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR, Gupta S, Honig NH, Kraus JP, Kruger WD.
Singh LR, et al.
PLoS Genet. 2010 Jan;6(1):e1000807. doi: 10.1371/journal.pgen.1000807. Epub 2010 Jan 8.
PLoS Genet. 2010.
PMID: 20066033
Free PMC article.
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Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
Kabil O, Banerjee R.
Kabil O, et al.
J Biol Chem. 1999 Oct 29;274(44):31256-60. doi: 10.1074/jbc.274.44.31256.
J Biol Chem. 1999.
PMID: 10531322
Free article.
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Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA, Davies MW, Dimster-Denk D, Pleskac N, McCarthy S, Boydston EA, Fink L, Lin XX, Narain AS, Meighan M, Rine J.
Mayfield JA, et al.
Genetics. 2012 Apr;190(4):1309-23. doi: 10.1534/genetics.111.137471. Epub 2012 Jan 20.
Genetics. 2012.
PMID: 22267502
Free PMC article.
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