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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...
Shranjeno v:
| izdano v: | J Pediatr Genet |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2019
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| Online dostop: | 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 |
| Oznake: |
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