Publication: A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus
dc.contributor.author | Ilhan, MAHMUT MUZAFFER | |
dc.contributor.author | Tiryakioglu, N. O. | |
dc.contributor.author | KARAMAN, O. | |
dc.contributor.author | Coskunpinar, E. | |
dc.contributor.author | YILDIZ, R. S. | |
dc.contributor.author | TURGUT, SEDA | |
dc.contributor.author | Tiryakioglu, D. | |
dc.contributor.author | TOPRAK, HÜSEYİN | |
dc.contributor.author | TASAN, ERTUĞRUL | |
dc.contributor.institutionauthor | İLHAN, MAHMUT MUZAFFER | |
dc.contributor.institutionauthor | KARAMAN, ÖZCAN | |
dc.contributor.institutionauthor | TURGUT, SEDA | |
dc.contributor.institutionauthor | TOPRAK, HÜSEYİN | |
dc.contributor.institutionauthor | TAŞAN, ERTUĞRUL | |
dc.date.accessioned | 2019-10-05T14:10:28Z | |
dc.date.available | 2019-10-05T14:10:28Z | |
dc.date.issued | 2016-03-01 | |
dc.description.abstract | Purpose 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.identifier | 10.1016/j.gene.2018.06.036 | |
dc.identifier.citation | Ilhan 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.doi | 10.1007/s40618-015-0357-9 | |
dc.identifier.pubmed | 26208472 | |
dc.identifier.scopus | 84959050832 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12645/3149 | |
dc.identifier.wos | WOS:000370842600005 | |
dc.language.iso | en | |
dc.title | A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus | |
dc.type | Article | |
dspace.entity.type | Publication | |
local.article.journalname | Gene | |
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local.indexed.at | PubMed | |
local.indexed.at | WOS | |
local.indexed.at | Scopus | |
local.org.faculty | Tıp Fakültesi | |
local.publication.goal | 03 - Sağlık ve Kaliteli Yaşam | |
local.publication.isinternational | 1 | |
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