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Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)
BACKGROUND: In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidit...
Autores principales: | Puzik, Alexander, Morris-Rosendahl, Deborah J, Rückauer, Klaus-Dieter, Otto, Claudia, Gessler, Peter, Saueressig, Ulrich, Hentschel, Roland |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898379/ https://www.ncbi.nlm.nih.gov/pubmed/24433235 http://dx.doi.org/10.1186/1471-2431-14-13 |
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