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IN SILICO AND IN VIVO MODELS FOR QATARI SPECIFIC CLASSICAL HOMOCYSTINURIA AS BASIS FOR DEVELOPMENT OF NOVEL THERAPIES
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense mutation, c.1006 C>T; p.R336C (p.Arg336Cys). We characterized the structure-func...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6586426/ https://ncbi.nlm.nih.gov/pubmed/30408270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23682 |
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