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The Spectrum of Mutations of Homocystinuria in the MENA Region
Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. Consequently, this build-up could lead to several complications such as nearsighted...
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| Publicado en: | Genes (Basel) |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7140887/ https://ncbi.nlm.nih.gov/pubmed/32245022 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030330 |
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