14624098

Source:http://linkedlifedata.com/resource/pubmed/id/14624098

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0220776, umls-concept:C0439660, umls-concept:C1521991, umls-concept:C1524003, umls-concept:C1865023
pubmed:issue	22
pubmed:dateCreated	2003-11-19
pubmed:abstractText	Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7610646
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Transport Proteins, http://linkedlifedata.com/resource/pubmed/chemical/TRAPPC2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	1528-1159
pubmed:author	pubmed-author:BrennerRolf ERE, pubmed-author:FiedlerJörgJ, pubmed-author:FrancesAnne-MarieAM, pubmed-author:Le MerrerMartineM, pubmed-author:RichterMarkusM
pubmed:issnType	Electronic
pubmed:day	15
pubmed:volume	28
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	E478-82
pubmed:dateRevised	2009-7-9
pubmed:meshHeading	pubmed-meshheading:14624098-Adolescent, pubmed-meshheading:14624098-Adult, pubmed-meshheading:14624098-Back Pain, pubmed-meshheading:14624098-Base Sequence, pubmed-meshheading:14624098-Carrier Proteins, pubmed-meshheading:14624098-Cervical Vertebrae, pubmed-meshheading:14624098-Child, pubmed-meshheading:14624098-DNA Mutational Analysis, pubmed-meshheading:14624098-Diagnosis, Differential, pubmed-meshheading:14624098-Female, pubmed-meshheading:14624098-Genetic Diseases, X-Linked, pubmed-meshheading:14624098-Humans, pubmed-meshheading:14624098-Lumbar Vertebrae, pubmed-meshheading:14624098-Male, pubmed-meshheading:14624098-Membrane Transport Proteins, pubmed-meshheading:14624098-Molecular Sequence Data, pubmed-meshheading:14624098-Osteochondrodysplasias, pubmed-meshheading:14624098-Pedigree, pubmed-meshheading:14624098-Phenotype, pubmed-meshheading:14624098-Spine, pubmed-meshheading:14624098-Thoracic Vertebrae, pubmed-meshheading:14624098-Transcription Factors
pubmed:year	2003
pubmed:articleTitle	X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
pubmed:affiliation	University of Ulm, Department of Orthopedics, Ulm, Germany.
pubmed:publicationType	Journal Article, Case Reports