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High prevalence of a mutation in the cystathionine beta-synthase gene.
We found that a mutation previously described by Sebastio et al., involving a 68-bp insertion in the coding region of exon 8 of the cystathionine-beta-synthase (CBS) gene in a single patient with homocystinuria, is highly prevalent. In our control population, 11.7% (9/77) of the individuals were het...
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| Glavni autori: | , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1996
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1914870/ https://ncbi.nlm.nih.gov/pubmed/8940271 |
| Oznake: |
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