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...
Kaydedildi:
| Yayımlandı: | J Clin Invest |
|---|---|
| Asıl Yazarlar: | , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Society for Clinical Investigation
1990
|
| Konular: | |
| Online Erişim: | 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 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|