Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

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dc.contributor.author	Gonçalves, JP
dc.contributor.author	Pinheiro, L
dc.contributor.author	Costa, M
dc.contributor.author	Silva, A
dc.contributor.author	Gonçalves, A
dc.contributor.author	Pereira, A
dc.date.accessioned	2013-12-13T11:04:43Z
dc.date.available	2013-12-13T11:04:43Z
dc.date.issued	2014
dc.description.abstract	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.	por
dc.identifier.citation	Gene. 2014;534(2):417-20	por
dc.identifier.uri	http://hdl.handle.net/10400.23/556
dc.language.iso	eng	por
dc.peerreviewed	yes	por
dc.publisher	Elsevier	por
dc.subject	Transportadores de Cassetes de Ligação de ATP	por
dc.subject	Doença da Membrana Hialina	por
dc.subject	Recém-Nascido	por
dc.subject	Proteína ABCA3	por
dc.subject	Síndrome de Dificuldade Respiratória do Recém-Nascido	por
dc.title	Novel ABCA3 mutations as a cause of respiratory distress in a term newborn	por
dc.type	journal article
dspace.entity.type	Publication
rcaap.rights	openAccess	por
rcaap.type	article	por

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