Linked Life Data

18662980

Source:http://linkedlifedata.com/resource/pubmed/id/18662980

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2008-10-6
pubmed:abstractText
Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance association with SMA. We report on heart defects in the subgroup of congenital SMA type I patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
635-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
pubmed:affiliation
Institute of Human Genetics, Technical University of Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't