Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Saved in:
Bibliographic Details
Title: Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
Authors: Lia-Baldini, Anne-Sophie1 asliabaldini@unilim.fr, Magdelaine, Corinne2, Nizou, Angélique1, Airault, Coraline1, Salles, Jean-Pierre3, Moulin, Pierre3, Delemer, Brigitte4, Aitouares, Mina5, Funalot, Benoît1,2, Sturtz, Franck1,2, Lienhardt-Roussie, Anne6
Source: European Journal of Endocrinology. Feb2013, Vol. 168 Issue 2, pK27-K34. 8p.
Database: Academic Search Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 88924482
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Lia-Baldini%2C+Anne-Sophie%22">Lia-Baldini, Anne-Sophie</searchLink><relatesTo>1</relatesTo><i> asliabaldini@unilim.fr</i><br /><searchLink fieldCode="AR" term="%22Magdelaine%2C+Corinne%22">Magdelaine, Corinne</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Nizou%2C+Angélique%22">Nizou, Angélique</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Airault%2C+Coraline%22">Airault, Coraline</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Salles%2C+Jean-Pierre%22">Salles, Jean-Pierre</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Moulin%2C+Pierre%22">Moulin, Pierre</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Delemer%2C+Brigitte%22">Delemer, Brigitte</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Aitouares%2C+Mina%22">Aitouares, Mina</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Funalot%2C+Benoît%22">Funalot, Benoît</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Sturtz%2C+Franck%22">Sturtz, Franck</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Lienhardt-Roussie%2C+Anne%22">Lienhardt-Roussie, Anne</searchLink><relatesTo>6</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Endocrinology%22">European Journal of Endocrinology</searchLink>. Feb2013, Vol. 168 Issue 2, pK27-K34. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=88924482
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1530/EJE-12-0714
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 8
        StartPage: K27
    Titles:
      – TitleFull: Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Lia-Baldini, Anne-Sophie
      – PersonEntity:
          Name:
            NameFull: Magdelaine, Corinne
      – PersonEntity:
          Name:
            NameFull: Nizou, Angélique
      – PersonEntity:
          Name:
            NameFull: Airault, Coraline
      – PersonEntity:
          Name:
            NameFull: Salles, Jean-Pierre
      – PersonEntity:
          Name:
            NameFull: Moulin, Pierre
      – PersonEntity:
          Name:
            NameFull: Delemer, Brigitte
      – PersonEntity:
          Name:
            NameFull: Aitouares, Mina
      – PersonEntity:
          Name:
            NameFull: Funalot, Benoît
      – PersonEntity:
          Name:
            NameFull: Sturtz, Franck
      – PersonEntity:
          Name:
            NameFull: Lienhardt-Roussie, Anne
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: Feb2013
              Type: published
              Y: 2013
          Identifiers:
            – Type: issn-print
              Value: 08044643
          Numbering:
            – Type: volume
              Value: 168
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: European Journal of Endocrinology
              Type: main
ResultId 1