First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis

So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus...

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Detalles Bibliográficos
Autores principales: Sahami, Abbas, Sadeghifard, Nourkhoda, Monsef, Alireza, Peyman, Hadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228576/
https://www.ncbi.nlm.nih.gov/pubmed/25400353
http://dx.doi.org/10.4103/0971-6866.142911

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228576/
https://www.ncbi.nlm.nih.gov/pubmed/25400353
http://dx.doi.org/10.4103/0971-6866.142911

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