Linked Life Data

18798833

Source:http://linkedlifedata.com/resource/pubmed/id/18798833

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-12-17
pubmed:abstractText
to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1651-2227
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
192-5
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
pubmed:affiliation
Human Genetics Center, Facultad de Medicina, Clinica Alemana-Universidad del Desarrollo, Santiago, Chile.
pubmed:publicationType
Journal Article, Case Reports