Linked Life Data

7906210

Source:http://linkedlifedata.com/resource/pubmed/id/7906210

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-3-24
pubmed:abstractText
The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the DXS255 locus as shown by digestion with MspI/HpaII, revealed moderate skewing of X-inactivation favouring the maternal allele in two of the probands. Random X-inactivation was present in all mothers tested and in two unaffected sisters. Three of four unaffected siblings had inherited the same maternal allele at DXS255.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
236-40
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.
pubmed:affiliation
Department of Clinical Genetics, Birmingham Maternity Hospital, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't