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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158034/
https://www.ncbi.nlm.nih.gov/pubmed/25176415
http://dx.doi.org/10.1186/1756-0500-7-583

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