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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Caldrer, Sara, Verzè, Genny, Johansson, Jan, Sorio, Claudio, Angiari, Chiara, Buffelli, Mario, Assael, Baroukh Maurice, Melotti, Paola
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!