Article
Clinical and molecular characterization of S1118F-CFTR.
Pediatric pulmonology - 1 Oct 2009
Penmatsa Himabindu, Frederick Carla A, Nekkalapu Sunitha, Conoley Veronica G, Zhang Weiqiang, Li Chunying, Kappes John, Stokes Dennis C, Naren Anjaparavanda P
Abstract excerpt
BACKGROUND: Cystic fibrosis is a lethal autosomal recessive disorder usually associated with lung disease, pancreatic insufficiency and high sweat chloride levels. CLINICAL CASE: A patient admitted to Le Bonheur Children's Medical Center (LBCMC, Memphis, TN) showed symptoms of meconium ileus which required exploratory laparotomy, bowel resection and ileostomy. Genotyping showed DeltaF508/I1027T on one chromosome...
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