Linked Life Data

21189475

Source:http://linkedlifedata.com/resource/pubmed/id/21189475

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-12-29
pubmed:abstractText
Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1476-5543
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
70-2
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
pubmed:affiliation
Division of Neonatology, University of Pisa, Santa Chiara Hospital, Pisa, Italy. m.ciantelli@libero.it
pubmed:publicationType
Journal Article, Case Reports