CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
| Author | |
|---|---|
| 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 |
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2018
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| Journal |
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Molecular genetics & genomic medicine
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| Date Published |
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2018
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| URL |
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http://dx.doi.org/10.1002/mgg3.342
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| DOI |
:
10.1002/mgg3.342
|
| Short Title |
:
Mol Genet Genomic Med
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| Download citation |
