A carregar...
Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.
Approximately 2% of Caucasians and African-Americans are homozygous for a nonsense mutation in exon 2 of the AMPD1 (AMP deaminase) gene. These individuals have a high grade deficiency of AMPD activity in their skeletal muscle. More than 100 patients with AMPD1 deficiency have been reported to have s...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1993
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC288231/ https://ncbi.nlm.nih.gov/pubmed/8486786 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|