CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
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| Title: | CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. |
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| Authors: | Maortua H; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, Instituto BioCruces, Barakaldo-Bizkaia, Spain., Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI |
| Source: | BMC medical genetics [BMC Med Genet] 2012 Aug 06; Vol. 13, pp. 68. Date of Electronic Publication: 2012 Aug 06. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 22867051 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Maortua+H%22">Maortua H</searchLink>; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, Instituto BioCruces, Barakaldo-Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Bouzas+C%22">Martínez-Bouzas C</searchLink><br /><searchLink fieldCode="AU" term="%22Calvo+MT%22">Calvo MT</searchLink><br /><searchLink fieldCode="AU" term="%22Domingo+MR%22">Domingo MR</searchLink><br /><searchLink fieldCode="AU" term="%22Ramos+F%22">Ramos F</searchLink><br /><searchLink fieldCode="AU" term="%22García-Ribes+A%22">García-Ribes A</searchLink><br /><searchLink fieldCode="AU" term="%22Martínez+MJ%22">Martínez MJ</searchLink><br /><searchLink fieldCode="AU" term="%22López-Aríztegui+MA%22">López-Aríztegui MA</searchLink><br /><searchLink fieldCode="AU" term="%22Puente+N%22">Puente N</searchLink><br /><searchLink fieldCode="AU" term="%22Rubio+I%22">Rubio I</searchLink><br /><searchLink fieldCode="AU" term="%22Tejada+MI%22">Tejada MI</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2012 Aug 06; Vol. 13, pp. 68. <i>Date of Electronic Publication: </i>2012 Aug 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=22867051 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1471-2350-13-68 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 68 Titles: – TitleFull: CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Maortua H – PersonEntity: Name: NameFull: Martínez-Bouzas C – PersonEntity: Name: NameFull: Calvo MT – PersonEntity: Name: NameFull: Domingo MR – PersonEntity: Name: NameFull: Ramos F – PersonEntity: Name: NameFull: García-Ribes A – PersonEntity: Name: NameFull: Martínez MJ – PersonEntity: Name: NameFull: López-Aríztegui MA – PersonEntity: Name: NameFull: Puente N – PersonEntity: Name: NameFull: Rubio I – PersonEntity: Name: NameFull: Tejada MI IsPartOfRelationships: – BibEntity: Dates: – D: 06 M: 08 Text: 2012 Aug 06 Type: published Y: 2012 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 13 Titles: – TitleFull: BMC medical genetics Type: main |
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