|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2008-6-18
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|
pubmed:abstractText |
Inability to produce surfactant protein (SP)-B causes fatal neonatal respiratory disease. Homozygosity for a frameshift mutation (121ins2) in the gene encoding SP-B (SFTPB) is the predominant but not the exclusive cause of disease.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0949-2321
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
24
|
|
pubmed:volume |
13
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
281-6
|
|
pubmed:meshHeading |
pubmed-meshheading:18558554-Biopsy,
pubmed-meshheading:18558554-DNA,
pubmed-meshheading:18558554-Exons,
pubmed-meshheading:18558554-Female,
pubmed-meshheading:18558554-Frameshift Mutation,
pubmed-meshheading:18558554-Gene Deletion,
pubmed-meshheading:18558554-Homozygote,
pubmed-meshheading:18558554-Humans,
pubmed-meshheading:18558554-Infant, Newborn,
pubmed-meshheading:18558554-Models, Biological,
pubmed-meshheading:18558554-Mutation,
pubmed-meshheading:18558554-Protein Precursors,
pubmed-meshheading:18558554-Proteolipids,
pubmed-meshheading:18558554-Sequence Analysis, DNA,
pubmed-meshheading:18558554-Surface-Active Agents,
pubmed-meshheading:18558554-Trachea
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.
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|
pubmed:affiliation |
Department of neonatology, Academic Medical Center, Amsterdam, The Netherlands.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
