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An intronic ABCA3 mutation responsible for respiratory disease
BACKGROUND: Member A3 of the ATP-Binding Cassette family of transporters (ABCA3) is essential for surfactant metabolism. Nonsense, missense, frameshift and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3607324/ https://ncbi.nlm.nih.gov/pubmed/22337229 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/pr.2012.21 |
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