CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Saved in:
Bibliographic Details
Title: CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
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
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 22867051
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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
ResultId 1