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rdf:type |
|
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lifeskim:mentions |
umls-concept:C0005744,
umls-concept:C0017337,
umls-concept:C0030705,
umls-concept:C0033377,
umls-concept:C0039082,
umls-concept:C0040649,
umls-concept:C0220663,
umls-concept:C0422792,
umls-concept:C1303003,
umls-concept:C1412815,
umls-concept:C1513780,
umls-concept:C1521761,
umls-concept:C2700050
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pubmed:issue |
6
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pubmed:dateCreated |
2011-5-23
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pubmed:abstractText |
The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II. The authors aimed to evaluate the involvement of FOXL2 in familial and sporadic cases of BPES in an Indian cohort.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1468-2079
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
881-6
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pubmed:meshHeading |
pubmed-meshheading:21325395-Adolescent,
pubmed-meshheading:21325395-Adult,
pubmed-meshheading:21325395-Asian Continental Ancestry Group,
pubmed-meshheading:21325395-Blepharophimosis,
pubmed-meshheading:21325395-Child,
pubmed-meshheading:21325395-Cohort Studies,
pubmed-meshheading:21325395-DNA Mutational Analysis,
pubmed-meshheading:21325395-Eyelids,
pubmed-meshheading:21325395-Female,
pubmed-meshheading:21325395-Forkhead Transcription Factors,
pubmed-meshheading:21325395-Gene Deletion,
pubmed-meshheading:21325395-Genetic Association Studies,
pubmed-meshheading:21325395-Humans,
pubmed-meshheading:21325395-India,
pubmed-meshheading:21325395-Male,
pubmed-meshheading:21325395-Middle Aged,
pubmed-meshheading:21325395-Mutation, Missense,
pubmed-meshheading:21325395-Pedigree,
pubmed-meshheading:21325395-Syndrome,
pubmed-meshheading:21325395-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
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pubmed:affiliation |
Hyderabad Eye Research Foundation, Hyderabad, India. inderjeet@lvpei.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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