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...

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Detalles Bibliográficos
Autores principales: Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

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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