About: Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus

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About: Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 2001

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 2001 (uk) article scientifique publié en 2001 (fr) im März 2001 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2001 (ast) scientific article published on 01 March 2001 (en)
publication date	wds:Q73795638-AA2E33BB-B5CB-4245-B47B-EDACA0795876
publication date	2001-03-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q73795638-072C4550-4519-4B26-81DF-854EA7E17989
exact match	https://scigraph.springernature.com/pub.10.1007/s001250051631
author name string	wds:Q73795638-27EE559A-DFC2-45CE-BD08-B2DF439C834E wds:Q73795638-2928325E-0CBF-4999-8FE4-E5F02228EF12 wds:Q73795638-6C7700F6-9AE4-4CAC-97D8-C2823FFA74F4 wds:Q73795638-93465A77-4B9B-4776-BFD7-DD3DA41DA708 wds:Q73795638-A05756A6-132E-41F1-BDE7-3D1EC24C617C wds:Q73795638-F91901AA-5393-4D74-AB35-E0476C1E5E7D
author name string	M Ogata H Ohashi N Iwasaki Y Iwamoto I Okabe M Y Momoi
rdfs:label	Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (en) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (nl)
skos:prefLabel	Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (en) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (nl)
name	Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (en) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (nl)
title	wds:Q73795638-C87183FC-C7DC-408A-A0D8-7209BE4B4283
title	Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus (en)
page(s)	wds:Q73795638-D23D6FB7-5275-471C-827E-C3EC59108328
page(s)	387-388
instance of	wds:Q73795638-91EC104E-A5EA-4759-AC50-FD6516465A40
instance of	scholarly article
main subject	wds:Q73795638-49E52221-2BA1-4F0F-9C23-95571001BFB2 wds:Q73795638-F824658A-CBD3-470C-B91B-AE9404195C40
main subject	type 2 diabetes Renal dysplasia
PubMed ID	wds:Q73795638-285B8FD2-543C-45BC-9381-BDEC2FB13A1F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11317673
PubMed ID	11317673
published in	wds:Q73795638-61B3DAC5-6590-4403-A773-7222A267C46C
published in	Diabetologia
issue	wds:Q73795638-EC09A09E-860E-46F9-93E6-61E0BC50EC68
volume	wds:Q73795638-7DA6D9AE-785A-4D7C-AF1E-B44A59B4DEB0
issue	3
volume	44
number of pages	wds:Q73795638-59FE5D48-54EC-4940-B6B2-542D72F5AADA
number of pages	2 (xsd:decimal)
DOI	wds:Q73795638-8C2426C9-69EC-4265-BBA7-181D1CBC2C8F
DOI	http://dx.doi.org/10.1007/S001250051631
DOI	10.1007/S001250051631
Dimensions Publication ID	wds:Q73795638-1D9FE664-5D0D-4024-95FD-E19DAB041972
Dimensions Publication ID	1041815246
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73795638
is cites work of	HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5) Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Hypothesis: a new role for the Renin-Angiotensin system in ureteric bud branching HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5. Update on clinical screening of maturity-onset diabetes of the young (MODY) Identification of dysregulated modules based on network entropy in type 1 diabetes.
is cites work of	wds:Q37517229-3C72EB42-E6CD-42BE-BA05-6476CA44DA36 wds:Q21558532-37F4830E-165C-4661-8205-18DF859CAE54 wds:Q24309464-B5894E69-8541-4B61-AE44-879E63075416 wds:Q47417947-D3BDF3B6-9803-48C0-B2B0-301F28E113B6 wds:Q43167987-09A35F33-EE89-48F6-9A82-717ABD1AAA1A wds:Q96303797-7F40D4B7-2A4F-48AF-B9D6-C9E159AD6AC0 wds:Q37238996-F1CA5EF5-AE2E-43BB-817A-477A3D60B4B2 wds:Q52653085-3AAD2662-5AC9-4C23-A6E1-4B3DCBF19866 wds:Q35088721-5CD9058F-325E-4196-B970-CFB4849B5C6C wds:Q38342427-0B7D8235-6751-4FC6-980D-42E939618261 wds:Q38299096-CA2301E2-34A2-4800-854A-49CC6A84A18E wds:Q37092762-DB060632-EDC1-4E92-B888-96871014C0B3

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