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A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency
We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine β-synthase (CBS) falls far short of the number of...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2795104/ https://ncbi.nlm.nih.gov/pubmed/19819175 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.09.009 |
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