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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...
Autores principales: | Sahami, Abbas, Sadeghifard, Nourkhoda, Monsef, Alireza, Peyman, Hadi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
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 |
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