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Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

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dc.contributor.authorCangul, Hakan
dc.contributor.authorMorgan, Neil V.
dc.contributor.authorFORMAN, Julia R.
dc.contributor.authorSaglam, Halil
dc.contributor.authorAYCAN, Zehra
dc.contributor.authorYakut, Tahsin
dc.contributor.authorGulten, Tuna
dc.contributor.authorTARIM, Omer
dc.contributor.authorBober, Ece
dc.contributor.authorCesur, YAŞAR
dc.contributor.authorKirby, Gail A.
dc.contributor.authorPasha, Shanaz
dc.contributor.authorKarkucak, Mutlu
dc.contributor.authorEREN, Erdal
dc.contributor.authorCETINKAYA, Semra
dc.contributor.authorBAS, Veysel
dc.contributor.authorDemir, Korcan
dc.contributor.authorYuca, Sevil A.
dc.contributor.authorMeyer, Esther
dc.contributor.authorKendall, Michaela
dc.contributor.authorHogler, Wolfgang
dc.contributor.authorBarrett, Timothy G.
dc.contributor.authorMaher, Eamonn R.
dc.contributor.institutionauthorCESUR, YAŞAR
dc.date.accessioned2020-10-29T23:00:46Z
dc.date.available2020-10-29T23:00:46Z
dc.date.issued2010-11-01T00:00:00Z
dc.description.abstractObjective Nonsyndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.
dc.identifier.citationCangul H., Morgan N. V. , FORMAN J. R. , Saglam H., AYCAN Z., Yakut T., Gulten T., TARIM O., Bober E., Cesur Y., et al., -Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism-, CLINICAL ENDOCRINOLOGY, cilt.73, ss.671-677, 2010
dc.identifier.doi10.1111/j.1365-2265.2010.03849.x
dc.identifier.scopus78449277937
dc.identifier.urihttp://hdl.handle.net/20.500.12645/26824
dc.identifier.wosWOS:000282635000017
dc.titleNovel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
dc.typeArticle
dspace.entity.typePublication
local.avesis.idcac19f94-792e-418a-b543-fde9109bfcf1
local.indexed.atWOS
local.indexed.atScopus
local.publication.isinternational1
relation.isAuthorOfPublicationddd881a5-c7cb-41e5-b4e1-0693a98a0d29
relation.isAuthorOfPublication.latestForDiscoveryddd881a5-c7cb-41e5-b4e1-0693a98a0d29

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