Linked Life Data

20222838

Source:http://linkedlifedata.com/resource/pubmed/id/20222838

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-3-12
pubmed:abstractText
Premature ovarian failure (POF) has recently been associated with mutations in Forkhead L2 (FOXL2) gene, which also being a candidate for blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome. In the current study, we performed a screening analysis by polymerase chain reaction and direct sequencing in 118 patients, including one with BPES and her family of six members. The results came back with no novel mutations but one common 30 bp duplication within FOXL2 polyalanine tract in the abovementioned POF plus BPES patient, suggesting mutations in FOXL2 gene was not common among Chinese patients with POF.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1473-0766
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
246-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure.
pubmed:affiliation
Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
pubmed:publicationType
Journal Article