21318334

Source:http://linkedlifedata.com/resource/pubmed/id/21318334

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015295, umls-concept:C0020792, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0036572, umls-concept:C0036857, umls-concept:C0205314, umls-concept:C0450254, umls-concept:C0679622, umls-concept:C1420484, umls-concept:C1833334, umls-concept:C1970780, umls-concept:C2348519
pubmed:issue	2
pubmed:dateCreated	2011-5-12
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9709714
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/CDKL5 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Protein-Serine-Threonine Kinases
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1364-6753
pubmed:author	pubmed-author:BoorRainerR, pubmed-author:CeulemansBertenB, pubmed-author:FischerUteU, pubmed-author:Gillessen-KaesbachGabrieleG, pubmed-author:HambrockMelanieM, pubmed-author:KalscheuerVera MVM, pubmed-author:KorenkeGeorg ChristophGC, pubmed-author:LacconeFrancoF, pubmed-author:LiebWolfgangW, pubmed-author:MoserBettinaB, pubmed-author:RademacherNilsN, pubmed-author:RungeCharlotteC, pubmed-author:SprangerStefanieS, pubmed-author:StefanovaIrinaI, pubmed-author:TzschachAndreasA
pubmed:issnType	Electronic
pubmed:volume	12
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	165-7
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:21318334-Adult, pubmed-meshheading:21318334-Age of Onset, pubmed-meshheading:21318334-Amino Acid Sequence, pubmed-meshheading:21318334-Animals, pubmed-meshheading:21318334-Base Sequence, pubmed-meshheading:21318334-Cells, Cultured, pubmed-meshheading:21318334-Cohort Studies, pubmed-meshheading:21318334-DNA Mutational Analysis, pubmed-meshheading:21318334-Exons, pubmed-meshheading:21318334-Female, pubmed-meshheading:21318334-Humans, pubmed-meshheading:21318334-Intellectual Disability, pubmed-meshheading:21318334-Mice, pubmed-meshheading:21318334-Molecular Sequence Data, pubmed-meshheading:21318334-Mutation, Missense, pubmed-meshheading:21318334-Phenotype, pubmed-meshheading:21318334-Protein-Serine-Threonine Kinases, pubmed-meshheading:21318334-Rett Syndrome, pubmed-meshheading:21318334-Seizures, pubmed-meshheading:21318334-Severity of Illness Index
pubmed:year	2011
pubmed:articleTitle	Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
pubmed:publicationType	Letter