dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Madariaga, Leire |
dc.contributor.author | Castaño, Alejandro |
dc.contributor.author | Martínez, Rosa |
dc.contributor.author | Aguayo Calcena, Anibal |
dc.contributor.author | Castaño, Luis |
dc.contributor.author | Ariceta Iraola, Gema |
dc.date.accessioned | 2019-08-01T11:48:49Z |
dc.date.available | 2019-08-01T11:48:49Z |
dc.date.issued | 2018-11-13 |
dc.identifier.citation | Madariaga L, García-Castaño A, Ariceta G, Martínez-Salazar R, Aguayo A, Castaño L, et al. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. Clin Kidney J. 2019;12(3):373–9. |
dc.identifier.issn | 2048-8505 |
dc.identifier.uri | https://hdl.handle.net/11351/4231 |
dc.description | CAKUT; HNF1B; MODY |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Clinical Kidney Journal;12(3) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Aparell genitourinari - Malalties |
dc.subject | Glucosa - Metabolisme |
dc.subject | Malalties congènites |
dc.subject | Proteïnes |
dc.subject | Mutació (Biologia) |
dc.subject.mesh | Urogenital Abnormalities |
dc.subject.mesh | Glucose Metabolism Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Hepatocyte Nuclear Factor 1-beta |
dc.subject.mesh | Mutation |
dc.title | Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/ckj/sfy102 |
dc.subject.decs | anomalías urogenitales |
dc.subject.decs | trastornos del metabolismo de la glucosa |
dc.subject.decs | /genética |
dc.subject.decs | factor nuclear 1-beta del hepatocito |
dc.subject.decs | mutación |
dc.relation.publishversion | https://academic.oup.com/ckj/article/12/3/373/5181379 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Madariaga L] Pediatric Nephrology Department, Cruces University Hospital, Barakaldo, Spain. Universidad del País Vasco, Barakaldo, Spain. Biocruces Health Research Institute, Barakaldo, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [García-Castaño A] Biocruces Health Research Institute, Barakaldo, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Ariceta G] Servei de Nefrologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Martínez-Salazar R, Aguayo A] Biocruces Health Research Institute, Barakaldo, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain. [Castaño L] Pediatric Nephrology Department, Cruces University Hospital, Barakaldo, Spain. Universidad del País Vasco, Barakaldo, Spain. Biocruces Health Research Institute, Barakaldo, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain |
dc.identifier.pmid | 31198537 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |