Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
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| Title: | Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries. |
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| Authors: | Alonso-Castellano P; Universidad Las Palmas Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: pabloalonsoc1997@gmail.com., Tugores A; Unidad Apoyo Investigación, CHUIMI, Las Palmas de Gran Canaria, Spain. Electronic address: atugores@yahoo.com., Mariño Z; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: zmarino@clinic.cat., Olveira A; Servicio Digestivo, Hospital Universitario La Paz, Madrid, Spain. Electronic address: aolveiram@gmail.com., Berenguer M; Hospital Universitari i Politècnic La Fe, IISLaFe, Universidad de Valencia y Ciberehd, Valencia, Spain. Electronic address: marina.berenguer@uv.es., Huarte MP; Complejo Hospitalario de Navarra, Pamplona, Spain. Electronic address: phuartem@navarra.es., Fernández-Ramos JR; Hospital Universitario de Cruces, Baracaldo, Spain. Electronic address: joseramon.fernandezramos@osakidetza.eus., Lázaro-Ríos M; Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: marialazarorios@hotmail.com., González-Diéguez ML; Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: luisagondi@hotmail.com., Moreno-Planas JM; Servicio de Aparato Digestivo, Complejo Hospitalario Universitario de Albacete, Facultad de Medicina Universidad de Castilla La Mancha, Spain. Electronic address: josemariamoren@yahoo.es., Hernández-Guerra M; Hospital Universitario de Canarias, Santa Cruz Tenerife, Spain. Electronic address: mhernand@ull.edu.es., Fernández-Álvarez P; Hospital Universitario Virgen Macarena, Sevilla, Spain. Electronic address: paulafer7@gmail.com., Delgado-Blanco M; Hospital Universitario A Coruña, A Coruña, Spain. Electronic address: manuel.delgado.blanco@sergas.es., Pinazo-Bandera JM; Unidad de Hepatología, Unidad de Gestión Clínica de Aparato Digestivo, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga-Plataforma Bionand, Málaga, Spain. Electronic address: Josepinazo@hotmail.es., Romero M; Hospital Universitario de Toledo, Toledo, Spain. Electronic address: m.romero.gutierrez@gmail.com., Ampuero J; Hospital Universitario Virgen del Rocío, Sevilla, Spain. Electronic address: jampuero-ibis@us.es., Masnou-Ridaura H; Hospital UniversitariGermansTrias i Pujol, Badalona, Spain. Electronic address: hmasnou.germanstrias@gencat.cat., Cachero A; Hospital Universitario de Bellvitge, Hospitalet de Llobregat, Spain. Electronic address: alba.cachero@bellvitgehospital.cat., Vargas V; LiverUnit, Hospital Vall d'Hebron, Universitat Autónoma Barcelona, CIBERehd, Barcelona, Spain. Electronic address: victor.vargas@uab.cat., Gómez-Camarero J; Hospital Universitario de Burgos, Burgos, Spain. Electronic address: jgomcam@hotmail.com., Morillas-Ariño MJ; Hospital Universitario Virgen de la Luz, Cuenca, Spain. Electronic address: Julmorar@hotmail.com., Molina-Pérez E; Hospital Clínico de Santiago, Santiago de Compostela, Spain. Electronic address: esther.molina.perez@sergas.es., Miralpeix A; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: amiralpeix@recerca.clinic.cat., García-Villarreal L; Grupo de Investigación Patología Médica, Instituto de Investigaciones Biomédicas y Sanitarias. Universidad de Las Palmas de Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: lgarciavillarreal@gmail.com. |
| Corporate Authors: | Spanish Wilson Registry AEEH |
| Source: | Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2025 Feb; Vol. 57 (2), pp. 443-449. Date of Electronic Publication: 2024 Sep 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100958385 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-3562 (Electronic) Linking ISSN: 15908658 NLM ISO Abbreviation: Dig Liver Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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