A carregar...
A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl
We report the case of a 12-year-old girl with an allergic bronchopulmonary aspergillosis (ABPA), intermediate sweat chloride tests and one cystic fibrosis (CF)-causing mutation, p.Phe508del. After extensive screening of the CF transmembrane regulator (CFTR) gene, she finally was found to carry a rar...
Na minha lista:
| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2012
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4543918/ https://ncbi.nlm.nih.gov/pubmed/23144343 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-006918 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|