লোডিং...
Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD
We studied 11 new kindreds with primary pigmented nodular adrenocortical disease (PPNAD) or Carney complex (CNC) and found that 82% of the kindreds had PRKAR1A gene defects (including seven novel inactivating mutations), most of which led to nonsense mRNA and, thus, were not expressed in patients’ c...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
The American Society of Human Genetics
2002
|
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC378588/ https://ncbi.nlm.nih.gov/pubmed/12424709 |
| ট্যাগগুলো: |
ট্যাগ যুক্ত করুন
কোনো ট্যাগ নেই, প্রথমজন হিসাবে ট্যাগ করুন!
|