An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of propionyl-CoA carboxylase (PCC; EC 6.4.1.3). Affected patients fall into two complementation groups, pccA and pccBC (subgroups B, C, and BC), resulting from deficiency of the nonidentical alpha and...
সংরক্ষণ করুন:
| প্রকাশিত: | Proc Natl Acad Sci U S A |
|---|---|
| প্রধান লেখক: | , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
National Academy of Sciences
1990
|
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53477/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2154743/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.4.1372 |
| ট্যাগগুলো: |
কোনো ট্যাগ নেই, প্রথমজন হিসাবে ট্যাগ করুন!
|