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Structure-Based Understanding of ABCA3 Variants
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient ca...
Autores principales: | Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508924/ https://www.ncbi.nlm.nih.gov/pubmed/34638622 http://dx.doi.org/10.3390/ijms221910282 |
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