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A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus

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dc.contributor.authorIlhan, MAHMUT MUZAFFER
dc.contributor.authorİLHAN, MAHMUT MUZAFFER
dc.contributor.authorKARAMAN, O.
dc.contributor.authorKARAMAN, ÖZCAN
dc.contributor.authorYILDIZ, R. S.
dc.contributor.authorTURGUT, SEDA
dc.contributor.authorTURGUT, SEDA
dc.contributor.authorTOPRAK, HÜSEYİN
dc.contributor.authorTOPRAK, HÜSEYİN
dc.contributor.authorTAŞAN, ERTUĞRUL
dc.date.accessioned2019-10-05T14:10:28Z
dc.date.available2019-10-05T14:10:28Z
dc.date.issued2016-03-01
dc.description.abstractPurpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.
dc.identifier10.1016/j.gene.2018.06.036
dc.identifier.citationIlhan M. M. , Tiryakioglu N. O. , KARAMAN O., Coskunpinar E., YILDIZ R. S. , TURGUT S., Tiryakioglu D., TOPRAK H., TASAN E., -A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus-, JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.39, ss.285-290, 2016
dc.identifier.doi10.1007/s40618-015-0357-9
dc.identifier.pubmed26208472
dc.identifier.scopus84959050832
dc.identifier.urihttps://hdl.handle.net/20.500.12645/3149
dc.identifier.wosWOS:000370842600005
dc.language.isoen
dc.titleA novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus
dc.typeArticle
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local.article.journalnameGene
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local.org.facultyTıp Fakültesi
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