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Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

dc.contributor.authorBaumber, Len_US
dc.contributor.authorTufarelli, Cen_US
dc.contributor.authorPatel, Sen_US
dc.contributor.authorKing, Pen_US
dc.contributor.authorJohnson, CAen_US
dc.contributor.authorMaher, ERen_US
dc.contributor.authorTrembath, RCen_US
dc.date.accessioned2015-05-26T14:46:18Z
dc.date.issued2005-05en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/7513
dc.description.sponsorshipThis work was supported by a Wellcome Trust grant (programme grant 062346/Z/00/Z, Functional Genomics National Autozygosity Mapping Resource).en_US
dc.format.extent443 - 448en_US
dc.language.isoenen_US
dc.relation.ispartofJ MED GENETen_US
dc.subjectCALCIUM-SENSING RECEPTORen_US
dc.subjectCA2+-SENSING RECEPTORen_US
dc.subjectSPORADIC HYPOPARATHYROIDISMen_US
dc.subjectPARATHYROID-HORMONEen_US
dc.subjectMAMMALIAN HOMOLOGen_US
dc.subjectGENEen_US
dc.subjectDROSOPHILAen_US
dc.subjectDOMAINen_US
dc.subjectGAINen_US
dc.subjectDOMINANTen_US
dc.titleIdentification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidismen_US
dc.typeArticle
dc.identifier.doi10.1136/jmg.2004.026898en_US
pubs.issue5en_US
pubs.notesNot knownen_US
pubs.volume42en_US


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