טוען...
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
A 20-bp deletion in the last exon of the pyruvate dehydrogenase (PDH) E1 alpha gene was found in a severely affected female patient diagnosed with PDH deficiency. PDH-complex activity in the patient's fibroblasts was 22% of that in normal controls. The mutation was characterized using PCR techn...
שמור ב:
| Main Authors: | , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
1991
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683296/ https://ncbi.nlm.nih.gov/pubmed/1907799 |
| תגים: |
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