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Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model
Cystathionine β-synthase (CBS) deficiency is a recessive genetic disorder in humans characterized by elevated levels in total plasma homocysteine (tHcy) and frequent thrombosis in humans. The I278T mutation is the most common mutation found in human CBS deficient patients. The T424N mutation was ide...
Tallennettuna:
| Päätekijät: | , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2005
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1283068/ https://ncbi.nlm.nih.gov/pubmed/15972722 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddi224 |
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