Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report

BACKGROUND: Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane regulator gene, including single nucleotide substitutions, insertions, and deletions. Unidentified mutations may still lie in introns or in regulatory regions, which are not routinely investigated,...

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Detalhes bibliográficos
Main Authors: da Silva Martins, Raisa, Fonseca, Ana Carolina Proença, Acosta, Franklyn Enrique Samudio, Folescu, Tania Wrobel, Higa, Laurinda Yoko Shinzato, Sad, Izabela Rocha, de Miranda Chaves, Célia Regina Moutinho, Cabello, Pedro Hernan, Cabello, Giselda Maria Kalil
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4158034/
https://ncbi.nlm.nih.gov/pubmed/25176415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-583
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