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A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report
Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high su...
Autores principales: | Al Balushi, Said, Al Balushi, Younis, Al Busaidi, Moza, Al Mutawa, Latifa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
OMJ
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8019455/ https://www.ncbi.nlm.nih.gov/pubmed/33854794 http://dx.doi.org/10.5001/omj.2021.28 |
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