טוען...
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G). MCAD deficiency typically presents in the second year of life as...
שמור ב:
| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
1994
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC295287/ https://ncbi.nlm.nih.gov/pubmed/7929823 |
| תגים: |
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