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Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients
The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (pa...
Gorde:
| Argitaratua izan da: | Saudi Med J |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Saudi Medical Journal
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4613637/ https://ncbi.nlm.nih.gov/pubmed/26318470 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15537/smj.2015.9.12118 |
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