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Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis

We report the first case in Peru of cystic fibrosis caused by a homozygous deletion of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. A 10-month-old child who presented with meconium ileus and pancreatic insufficiency was tested for cystic fibrosis. Both parents of the child...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Vásquez Sotomayor, Flor, Abarca-Barriga, Hugo Hernán
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2019
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688885/
https://ncbi.nlm.nih.gov/pubmed/31406621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1678682
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