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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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| Publicado no: | Am J Respir Crit Care Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Thoracic Society
2014
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| Assuntos: | |
| Acesso em linha: | 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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