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16762234
Source:
http://linkedlifedata.com/resource/pubmed/id/16762234
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0030705
,
umls-concept:C0152035
,
umls-concept:C0265237
,
umls-concept:C0796357
,
umls-concept:C1412815
pubmed:issue
5
pubmed:dateCreated
2006-6-9
pubmed:abstractText
To identify the genetic mutation in two Chinese families and 6 sporadic patients with belpharophimosis-ptosis-epicanthus inversus syndrome (BPES).
pubmed:language
chi
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/16210540R
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/FOXL2 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Forkhead Transcription Factors
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0412-4081
pubmed:author
pubmed-author:GuJing-zhiJZ
,
pubmed-author:HuangShang-zhiSZ
,
pubmed-author:JiaHong-yanHY
,
pubmed-author:LinHuiH
,
pubmed-author:LiuYa-pingYP
,
pubmed-author:QiYan-huaYH
,
pubmed-author:SuHongH
,
pubmed-author:YingLiL
pubmed:issnType
Print
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
409-14
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:16762234-Asian Continental Ancestry Group
,
pubmed-meshheading:16762234-Blepharophimosis
,
pubmed-meshheading:16762234-Blepharoptosis
,
pubmed-meshheading:16762234-China
,
pubmed-meshheading:16762234-Chromosomes, Human, Pair 3
,
pubmed-meshheading:16762234-Eyelid Diseases
,
pubmed-meshheading:16762234-Female
,
pubmed-meshheading:16762234-Forkhead Transcription Factors
,
pubmed-meshheading:16762234-Genetic Linkage
,
pubmed-meshheading:16762234-Humans
,
pubmed-meshheading:16762234-Male
,
pubmed-meshheading:16762234-Mutation
,
pubmed-meshheading:16762234-Pedigree
,
pubmed-meshheading:16762234-Polymorphism, Genetic
,
pubmed-meshheading:16762234-Syndrome
pubmed:year
2006
pubmed:articleTitle
[Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
pubmed:affiliation
Department of Ophthalmology, Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China. qi_yanhua@yahoo.com
pubmed:publicationType
Journal Article
,
English Abstract