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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty percent of patients are homozygous for a common mutation, 985A→G, and a further 18% have this mutation in only one disease allele. In addition,...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
The American Society of Human Genetics
2001
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226127/ https://ncbi.nlm.nih.gov/pubmed/11349232 |
| Etiketak: |
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