View in EDS

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.

Saved in:
Bibliographic Details
Title: New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Authors: Pyromali I; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France., Perani A; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Nizou A; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France., Benslimane N; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France., Derouault P; CHU Limoges, Service de Bioinformatique, F-87000 Limoges, France., Bourthoumieu S; CHU Limoges, Service de Cytogénétique, Génétique Médicale et Biologie de la Reproduction, F-87000 Limoges, France., Fradin M; CHU Rennes, CLAD Ouest, Service de Génétique, F-35203 Rennes, France., Sole G; CHU Bordeaux (Groupe Hospitalier Pellegrin), Service de Neurologie et Centre de Référence des Maladies Neuromusculaires AOC, F-33000 Bordeaux, France., Duval F; CHU Bordeaux (Groupe Hospitalier Pellegrin), Service de Neurologie et Centre de Référence des Maladies Neuromusculaires AOC, F-33000 Bordeaux, France., Gomes C; Hôpital Pontchaillou, Département de Neurophysiologie, F-35200 Rennes, France., Favreau F; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Sturtz F; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Magdelaine C; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Lia AS; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.; CHU Limoges, Service de Bioinformatique, F-87000 Limoges, France.
Source: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2021 Jul 30; Vol. 19, pp. 4265-4272. Date of Electronic Publication: 2021 Jul 30 (Print Publication: 2021).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 34429846
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Pyromali+I%22">Pyromali I</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Perani+A%22">Perani A</searchLink>; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Nizou+A%22">Nizou A</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Benslimane+N%22">Benslimane N</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Derouault+P%22">Derouault P</searchLink>; CHU Limoges, Service de Bioinformatique, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Bourthoumieu+S%22">Bourthoumieu S</searchLink>; CHU Limoges, Service de Cytogénétique, Génétique Médicale et Biologie de la Reproduction, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Fradin+M%22">Fradin M</searchLink>; CHU Rennes, CLAD Ouest, Service de Génétique, F-35203 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Sole+G%22">Sole G</searchLink>; CHU Bordeaux (Groupe Hospitalier Pellegrin), Service de Neurologie et Centre de Référence des Maladies Neuromusculaires AOC, F-33000 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Duval+F%22">Duval F</searchLink>; CHU Bordeaux (Groupe Hospitalier Pellegrin), Service de Neurologie et Centre de Référence des Maladies Neuromusculaires AOC, F-33000 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Gomes+C%22">Gomes C</searchLink>; Hôpital Pontchaillou, Département de Neurophysiologie, F-35200 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Favreau+F%22">Favreau F</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Sturtz+F%22">Sturtz F</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Magdelaine+C%22">Magdelaine C</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Lia+AS%22">Lia AS</searchLink>; Univ. Limoges, MMNP, EA6309, F-87000 Limoges, France.; CHU Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.; CHU Limoges, Service de Bioinformatique, F-87000 Limoges, France.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101585369%22">Computational and structural biotechnology journal</searchLink> [Comput Struct Biotechnol J] 2021 Jul 30; Vol. 19, pp. 4265-4272. <i>Date of Electronic Publication: </i>2021 Jul 30 (<i>Print Publication: </i>2021).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+B%2EV%2E+on+behalf+of+Research+Network+of+Computational+and+Structural+Biotechnology%22">Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101585369 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2001-0370 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220010370%22">20010370 </searchLink><i>NLM ISO Abbreviation: </i>Comput Struct Biotechnol J <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34429846
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.csbj.2021.07.037
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 4265
    Titles:
      – TitleFull: New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Pyromali I
      – PersonEntity:
          Name:
            NameFull: Perani A
      – PersonEntity:
          Name:
            NameFull: Nizou A
      – PersonEntity:
          Name:
            NameFull: Benslimane N
      – PersonEntity:
          Name:
            NameFull: Derouault P
      – PersonEntity:
          Name:
            NameFull: Bourthoumieu S
      – PersonEntity:
          Name:
            NameFull: Fradin M
      – PersonEntity:
          Name:
            NameFull: Sole G
      – PersonEntity:
          Name:
            NameFull: Duval F
      – PersonEntity:
          Name:
            NameFull: Gomes C
      – PersonEntity:
          Name:
            NameFull: Favreau F
      – PersonEntity:
          Name:
            NameFull: Sturtz F
      – PersonEntity:
          Name:
            NameFull: Magdelaine C
      – PersonEntity:
          Name:
            NameFull: Lia AS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 30
              M: 07
              Text: 2021 Jul 30
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-print
              Value: 2001-0370
          Numbering:
            – Type: volume
              Value: 19
          Titles:
            – TitleFull: Computational and structural biotechnology journal
              Type: main
ResultId 1