載入...
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
We studied DNA from 29 families with at least one member with ornithine carbamoyl transferase (OCT) deficiency and have found a mutation in the TaqI site within exon 5 of the OCT gene in a female presenting at the age of 21 months. Hybridisation with site specific oligonucleotides shows that the mut...
Na minha lista:
| Main Authors: | , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1991
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1017166/ https://ncbi.nlm.nih.gov/pubmed/1757964 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|