טוען...
Analysis of the Qatari R336C Cystathionine -Synthase Protein in Mice
Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase (CBS) gene. The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a foun...
שמור ב:
| הוצא לאור ב: | J Inherit Metab Dis |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7336392/ https://ncbi.nlm.nih.gov/pubmed/31240737 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12140 |
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