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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Vydáno v:J Clin Invest
Hlavní autoři: Naito, E, Indo, Y, Tanaka, K
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1990
Témata:
Research Article
On-line přístup: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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