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Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia

Mutation in ABCA3, which is adenosine triphosphate-binding cassette member A3, a member of protein transporter family for phospholipids into the lamellar bodies during synthesis of surfactant, can cause lung disease related to surfactant dysfunction with autosomal recessive pattern. We reported thre...

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Detalles Bibliográficos
Autores principales: Mukhtar, Gawahir Mohamed Ahmed, Al Otaibi, Wadha Hilal, Al-Mobaireek, Khalid Fahad Abdullah, Al-Saleh, Suhail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966228/
https://www.ncbi.nlm.nih.gov/pubmed/27512515
http://dx.doi.org/10.4103/1817-1737.182900