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16941129
Source:
http://linkedlifedata.com/resource/pubmed/id/16941129
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54
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0004398
,
umls-concept:C0026882
,
umls-concept:C0037047
,
umls-concept:C0205210
,
umls-concept:C0205314
,
umls-concept:C0679622
,
umls-concept:C0750729
,
umls-concept:C1302234
,
umls-concept:C1314792
,
umls-concept:C1418674
,
umls-concept:C1521991
,
umls-concept:C2607943
,
umls-concept:C2926606
pubmed:issue
4
pubmed:dateCreated
2007-2-19
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7603873
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Phosphotransferases (Phosphomutases)
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0340-6199
pubmed:author
pubmed-author:BaghaiAliA
,
pubmed-author:GortnerLudwigL
,
pubmed-author:HänsgenAndreaA
,
pubmed-author:KimYoo-JinYJ
,
pubmed-author:LindingerAngelikaA
,
pubmed-author:WurmDonaldD
pubmed:issnType
Print
pubmed:volume
166
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
377-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:16941129-Alleles
,
pubmed-meshheading:16941129-Autopsy
,
pubmed-meshheading:16941129-Congenital Disorders of Glycosylation
,
pubmed-meshheading:16941129-Fatal Outcome
,
pubmed-meshheading:16941129-Female
,
pubmed-meshheading:16941129-Genotype
,
pubmed-meshheading:16941129-Humans
,
pubmed-meshheading:16941129-Infant
,
pubmed-meshheading:16941129-Infant, Newborn
,
pubmed-meshheading:16941129-Male
,
pubmed-meshheading:16941129-Mutation
,
pubmed-meshheading:16941129-Phenotype
,
pubmed-meshheading:16941129-Phosphotransferases (Phosphomutases)
,
pubmed-meshheading:16941129-Siblings
pubmed:year
2007
pubmed:articleTitle
Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.
pubmed:affiliation
Department of Pediatrics and Neonatology, University Children's Hospital, Kirrbergerstrasse, Building 9, 66421, Homburg/Saar, Germany. donaldwurm@freenet.de
pubmed:publicationType
Journal Article
,
Case Reports