Novel ABCA3 mutations as a cause of respiratory distress in a term newborn
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn
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DOI：
10.1016/j.gene.2013.11.015
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发表时间：
2014-01-25
期刊：
影响因子：
3.5
通讯作者：
Pereira, Almerinda
中科院分区：
文献类型：
--
作者：
Goncalves, Jean-Pierre;Pinheiro, Liliana;Pereira, Almerinda
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene.ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome. (C) 2013 Elsevier B.V. All rights reserved.
