Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran

INTRODUCTION: ABCA3 glycoprotein belongs to the ATP-binding cassette (ABC) superfamily of transporters, which utilize the energy derived from hydrolysis of ATP for the translocation of a wide variety of substrates across the plasma membrane. Mutations in the ABCA3 gene are knowingly causative for fa...

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Detalles Bibliográficos
Autores principales: Rezaei, Farideh, Shafiei, Mohammad, Shariati, Gholamreza, Dehdashtian, Ali, Mohebbi, Maryam, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939234/
https://www.ncbi.nlm.nih.gov/pubmed/27437095
http://dx.doi.org/10.5812/ijp.2493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939234/
https://www.ncbi.nlm.nih.gov/pubmed/27437095
http://dx.doi.org/10.5812/ijp.2493

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