17971434

Source:http://linkedlifedata.com/resource/pubmed/id/17971434

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0035826, umls-concept:C0037772, umls-concept:C1512456, umls-concept:C1539809, umls-concept:C1866855
pubmed:issue	5
pubmed:dateCreated	2008-4-14
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985191R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases, http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites, http://linkedlifedata.com/resource/pubmed/chemical/SPAST protein, human
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1468-330X
pubmed:author	pubmed-author:BabaliniCC, pubmed-author:BernardiGG, pubmed-author:BorrecaAA, pubmed-author:KawaraiTT, pubmed-author:OrlacchioAA, pubmed-author:PatronoCC
pubmed:issnType	Electronic
pubmed:volume	79
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	606-7
pubmed:meshHeading	pubmed-meshheading:17971434-Adenosine Triphosphatases, pubmed-meshheading:17971434-Adult, pubmed-meshheading:17971434-Age of Onset, pubmed-meshheading:17971434-Aged, pubmed-meshheading:17971434-Chromosome Aberrations, pubmed-meshheading:17971434-Chromosome Deletion, pubmed-meshheading:17971434-Codon, Nonsense, pubmed-meshheading:17971434-Cross-Sectional Studies, pubmed-meshheading:17971434-DNA Mutational Analysis, pubmed-meshheading:17971434-Female, pubmed-meshheading:17971434-Frameshift Mutation, pubmed-meshheading:17971434-Genes, Dominant, pubmed-meshheading:17971434-Genetics, Population, pubmed-meshheading:17971434-Heterozygote Detection, pubmed-meshheading:17971434-Humans, pubmed-meshheading:17971434-Male, pubmed-meshheading:17971434-Middle Aged, pubmed-meshheading:17971434-Mutagenesis, Insertional, pubmed-meshheading:17971434-Mutation, Missense, pubmed-meshheading:17971434-Phenotype, pubmed-meshheading:17971434-RNA Splice Sites, pubmed-meshheading:17971434-Spastic Paraplegia, Hereditary
pubmed:year	2008
pubmed:articleTitle	Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
pubmed:publicationType	Letter, Research Support, Non-U.S. Gov't