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Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency
Rationale: Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private. Objectives: To determine genotype–phenotype correlations for recessive ABCA3 mutations. Methods: We r...
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| Pubblicato in: | Am J Respir Crit Care Med |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Thoracic Society
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4226019/ https://ncbi.nlm.nih.gov/pubmed/24871971 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.201402-0342OC |
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