Linked Life Data

17785671

Source:http://linkedlifedata.com/resource/pubmed/id/17785671

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2007-9-5
pubmed:abstractText
Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4 contraction is associated with significant allele-specific hypomethylation of the repeat. Hypomethylation of D4Z4 is also observed in patients with phenotypic FSHD without contraction of D4Z4 and in patients with the immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome, an unrelated disease that does not present with muscular dystrophy and is in part caused by DNMT3B mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
4
pubmed:volume
69
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1018-26
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
pubmed:affiliation
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't