CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
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| Abstract | :
Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. |
| Year of Publication | :
2018
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| Journal | :
Molecular genetics & genomic medicine
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| Date Published | :
2018
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| URL | :
http://dx.doi.org/10.1002/mgg3.342
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| DOI | :
10.1002/mgg3.342
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| Short Title | :
Mol Genet Genomic Med
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