Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Two distinct mutant alleles of the precursor (p) short chain acyl-CoA dehydrogenase (SCAD) gene were identified in a SCAD-deficient patient (YH2065) using the polymerase chain reaction to amplify cDNA synthesized from total RNA from her fibroblasts. Cells from this patient had previously been shown...
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| Publicado en: | J Clin Invest |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
American Society for Clinical Investigation
1990
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296608/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1692038/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114607 |
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