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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Skovby, Flemming, Gaustadnes, Mette, Mudd, S. Harvey
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2010
Gaiak:
Sarrera elektronikoa: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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