Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/107132
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dc.contributor.authorKrone, Nilsen_US
dc.contributor.authorRiepe, Felix Güntheren_US
dc.contributor.authorDörr, Helmuth-Güntheren_US
dc.contributor.authorMorlot, Michelen_US
dc.contributor.authorRudorff, Karl-Heinzen_US
dc.contributor.authorDrop, Stenvert L.S.en_US
dc.contributor.authorWeigel, Johannesen_US
dc.contributor.authorPura, Mikulasen_US
dc.contributor.authorKreze, Alexanderen_US
dc.contributor.authorBoronat Cortés, Mauroen_US
dc.contributor.authorde Luca, Filippoen_US
dc.contributor.authorTiulpakov, Anatolyen_US
dc.contributor.authorPartsch, Carl-Joachimen_US
dc.contributor.authorPeter, Michaelen_US
dc.contributor.authorSippell, Wolfgang G.en_US
dc.date.accessioned2021-05-06T09:22:49Z-
dc.date.available2021-05-06T09:22:49Z-
dc.date.issued2005en_US
dc.identifier.issn1059-7794en_US
dc.identifier.urihttp://hdl.handle.net/10553/107132-
dc.description.abstractX‐linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function. These were three nonsense mutations (c.312C>A, p.Cys104X, c.670C>T, p.Gln224X; and c.873G>A, p.Trp291X), five duplications (c.269lowbar;270dup, c.421lowbar;422dup, c.895lowbar;896dup, c.989dup, c.999lowbar;1000dup), and five deletions (c.483del, c.745lowbar;746del, c.734lowbar;740del, c.1092del, and c.1346del). All of the mutations resulted in a premature stop codon destroying the ligand binding domain of the predictive DAX1 protein.en_US
dc.languageengen_US
dc.relation.ispartofHuman Mutationen_US
dc.sourceHuman Mutation [ISSN 1059-7794], v. 25 (5), p. 502-502en_US
dc.subject32 Ciencias médicasen_US
dc.subject.otherNR0B1en_US
dc.subject.otherDAX1en_US
dc.subject.otherAHCen_US
dc.subject.otherAdrenal hypoplasia congenitalen_US
dc.subject.otherOrphan nuclear receptoren_US
dc.titleThirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenitaen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typearticleen_US
dc.identifier.doi10.1002/humu.9331en_US
dc.identifier.issue5-
dc.description.firstpage502en_US
dc.relation.volume25en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.utils.revisionen_US
dc.identifier.ulpgcNoen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr7,923
dc.description.jcrqQ1
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptDiabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptCiencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0001-8535-8543-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameBoronat Cortés, Mauro-
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