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[Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus].

Nederlands tijdschrift voor geneeskunde - 13 May 2000

van den Akker E L, de Groot M R, Abbes A P, Bruggeman E J, Franken A A, Engel H

Abstract excerpt

OBJECTIVE: Elucidation and identification of the molecular biological alteration in the arginine-vasopressin neurophysin II AVP-NPII gene in a family with familial neurohypophysial diabetes insipidus (FNDI). DESIGN: Descriptive. METHODS: Following the finding of diabetes insipidus in a 2-year-old boy and his father a molecular genetic investigation was performed in the Isala Klinieken, Sophia location, in Zwolle,...

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PMID: 10827849

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AVP

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[Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus].PMID 10827849Read ↗

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Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.Semantic proximity Read ↗

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Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene.Semantic proximity Read ↗

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A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

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