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Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
Apple, Benjamin; Sartori, Gino; Moore, Bryn; Chintam, Kiran; Singh, Gurmukteshwar; Anand, Prince Mohan; Strande, Natasha T; Mirshahi, Tooraj; Triffo, William; Chang, Alexander R.
Afiliación
  • Apple B; Department of Medicine, Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA.
  • Sartori G; Department of Radiology, Geisinger, Danville, Pennsylvania, USA.
  • Moore B; Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA.
  • Chintam K; Department of Nephrology, Geisinger, Danville, Pennsylvania, USA.
  • Singh G; Department of Nephrology, Geisinger, Danville, Pennsylvania, USA; Center for Kidney Health Research, Department of Population Health Sciences, Geisinger, Danville, Pennsylvania, USA.
  • Anand PM; Department of Nephrology, Medical University of South Carolina, Lancaster, South Carolina, USA.
  • Strande NT; Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA; Autism and Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Mirshahi T; Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA.
  • Triffo W; Department of Radiology, Geisinger, Danville, Pennsylvania, USA.
  • Chang AR; Department of Nephrology, Geisinger, Danville, Pennsylvania, USA; Center for Kidney Health Research, Department of Population Health Sciences, Geisinger, Danville, Pennsylvania, USA. Electronic address: achang@geisinger.edu.
Kidney Int ; 103(3): 607-615, 2023 03.
Article en En | MEDLINE | ID: mdl-36574950
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Quistes / Enfermedades Renales Poliquísticas / Hepatopatías Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Quistes / Enfermedades Renales Poliquísticas / Hepatopatías Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article