Linked Life Data

7910982

Source:http://linkedlifedata.com/resource/pubmed/id/7910982

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5164
pubmed:dateCreated
1994-6-29
pubmed:abstractText
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy repeats in this region. Allele segregation was analyzed at the closest genetic loci detected by markers C212 and C272 in 201 SMA families. Inherited and de novo deletions were observed in nine unrelated SMA patients. Moreover, deletions were strongly suggested in at least 18 percent of SMA type I patients by the observation of marked heterozygosity deficiency for the loci studied. These results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0036-8075
pubmed:author
pubmed:issnType
Print
pubmed:day
3
pubmed:volume
264
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
1474-7
pubmed:dateRevised
2007-3-19
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
pubmed:affiliation
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't