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Cystic Fibrosis in a Hispanic Adolescent

We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which resu...

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Detalhes bibliográficos
Main Authors: Lin, Jenny H., Collaco, Joseph M., Paranjape, Shruti M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4052445/
https://ncbi.nlm.nih.gov/pubmed/23401342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ppul.22758
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