A carregar...
Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
BACKGROUND: This report describe for the first time a clinical case with a CFTR allelic variant 186-8T/C (c.54-8 T/C) in intron 1 of CFTR and underline the importance of applying a combination of genetic and functional tests to establish or exclude a diagnosis of Cystic Fibrosis. In this case the di...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3995624/ https://ncbi.nlm.nih.gov/pubmed/24621136 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2466-14-44 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|