- Abstract:
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Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type affinity, leaving undetermined the disease mechanism involved [Froese et al., Mechanism of responsiveness, Mol. Genet. Metab. (2009).]. To assess whether the mutation renders the protein unstable, w...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(pdf, 731.4KB)
-
- Publisher copy:
- 10.1016/j.ymgme.2010.02.005
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- Publisher:
- Elsevier Publisher's website
- Journal:
- Molecular genetics and metabolism Journal website
- Volume:
- 100
- Issue:
- 1
- Pages:
- 29-36
- Publication date:
- 2010-01-01
- DOI:
- EISSN:
-
1096-7206
- ISSN:
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1096-7192
- URN:
-
uuid:27533a0b-79de-45ca-9886-3e2eca049b15
- Local pid:
- SGC:20219402
- Copyright holder:
- Wellcome Trust, Elsevier Inc., and Canadian Institutes of Health Research
- Copyright date:
- 2010
- Notes:
-
Copyright © 2010 Elsevier Inc. Open access under CC BY license.
Journal article
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder
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