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17154333
Source:
http://linkedlifedata.com/resource/pubmed/id/17154333
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rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0033053
,
umls-concept:C0457133
pubmed:issue
1
pubmed:dateCreated
2006-12-18
pubmed:abstractText
To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/8106540
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/N-Acetylglucosaminyltransferases
,
http://linkedlifedata.com/resource/pubmed/chemical/protein O-mannose...
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0197-3851
pubmed:author
pubmed-author:BalciBurcuB
,
pubmed-author:CelebiAsliA
,
pubmed-author:DinçerPervinP
,
pubmed-author:Morris-RosendahlDeborah JDJ
,
pubmed-author:TalimBerilB
,
pubmed-author:TopalogluHalukH
pubmed:copyrightInfo
Copyright 2007 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
51-4
pubmed:meshHeading
pubmed-meshheading:17154333-Adolescent
,
pubmed-meshheading:17154333-Brain Diseases
,
pubmed-meshheading:17154333-Chorionic Villi Sampling
,
pubmed-meshheading:17154333-Chromosome Mapping
,
pubmed-meshheading:17154333-Consanguinity
,
pubmed-meshheading:17154333-Eye Diseases, Hereditary
,
pubmed-meshheading:17154333-Female
,
pubmed-meshheading:17154333-Fetal Diseases
,
pubmed-meshheading:17154333-Humans
,
pubmed-meshheading:17154333-Magnetic Resonance Imaging
,
pubmed-meshheading:17154333-Muscular Dystrophies
,
pubmed-meshheading:17154333-N-Acetylglucosaminyltransferases
,
pubmed-meshheading:17154333-Pedigree
,
pubmed-meshheading:17154333-Pregnancy
,
pubmed-meshheading:17154333-Prenatal Diagnosis
pubmed:year
2007
pubmed:articleTitle
Prenatal diagnosis of muscle-eye-brain disease.
pubmed:affiliation
Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.
pubmed:publicationType
Journal Article