View in EDS HTML Full Text PDF Full Text

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Saved in:
Bibliographic Details
Title: Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Authors: Michaud V; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Sequeira A; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Mercier E; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, University of Paris, Imagine Institute, AP-HP5, Necker-Enfants Malades Hospital, Paris, France., Whalen S; Clinical Genetics, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP, Sorbonne University, Hospital Armand Trousseau, Paris, France., Bonneau D; Department of Genetics, University Hospital Angers, Angers, France., Dieux-Coeslier A; Clinical Genetics Department, Reference Center for Developmental Anomalies, CHU Lille, Lille, France., Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, Rouen, France., Arveiler B; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Javerzat S; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.
Source: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. Date of Electronic Publication: 2023 Aug 31.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37650133
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Michaud+V%22">Michaud V</searchLink>; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Sequeira+A%22">Sequeira A</searchLink>; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Mercier+E%22">Mercier E</searchLink>; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lasseaux+E%22">Lasseaux E</searchLink>; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Plaisant+C%22">Plaisant C</searchLink>; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Hadj-Rabia+S%22">Hadj-Rabia S</searchLink>; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, University of Paris, Imagine Institute, AP-HP5, Necker-Enfants Malades Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Whalen+S%22">Whalen S</searchLink>; Clinical Genetics, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP, Sorbonne University, Hospital Armand Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Department of Genetics, University Hospital Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Dieux-Coeslier+A%22">Dieux-Coeslier A</searchLink>; Clinical Genetics Department, Reference Center for Developmental Anomalies, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Morice-Picard+F%22">Morice-Picard F</searchLink>; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Arveiler+B%22">Arveiler B</searchLink>; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Javerzat+S%22">Javerzat S</searchLink>; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101318927%22">Pigment cell & melanoma research</searchLink> [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. <i>Date of Electronic Publication: </i>2023 Aug 31.
– 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="%22Blackwell+Munksgaard%22">Blackwell Munksgaard </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101318927 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-148X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217551471%22">17551471 </searchLink><i>NLM ISO Abbreviation: </i>Pigment Cell Melanoma Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37650133
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/pcmr.13123
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 534
    Titles:
      – TitleFull: Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Michaud V
      – PersonEntity:
          Name:
            NameFull: Sequeira A
      – PersonEntity:
          Name:
            NameFull: Mercier E
      – PersonEntity:
          Name:
            NameFull: Lasseaux E
      – PersonEntity:
          Name:
            NameFull: Plaisant C
      – PersonEntity:
          Name:
            NameFull: Hadj-Rabia S
      – PersonEntity:
          Name:
            NameFull: Whalen S
      – PersonEntity:
          Name:
            NameFull: Bonneau D
      – PersonEntity:
          Name:
            NameFull: Dieux-Coeslier A
      – PersonEntity:
          Name:
            NameFull: Morice-Picard F
      – PersonEntity:
          Name:
            NameFull: Coursimault J
      – PersonEntity:
          Name:
            NameFull: Arveiler B
      – PersonEntity:
          Name:
            NameFull: Javerzat S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2024 Sep
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1755-148X
          Numbering:
            – Type: volume
              Value: 37
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Pigment cell & melanoma research
              Type: main
ResultId 1