Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing

Affiliations

• ¹ Soins Intensifs Néphrologiques et Rein Aigu (SINRA), Nephrology Department, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
• ² Inserm UMR_S1155, Paris, France.
• ³ Nephrology and Kidney Transplantation Center, Assistance publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.
• ⁴ Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France.
• ⁵ Eurofins Biomnis Laboratory, Lyon, France.
• ⁶ ISCD, Maison des Modélisations Ingénieries et Technologies, Sorbonne University, Paris, France.
• ⁷ Center of Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
• ⁸ UMR_7238 - Biologie Computationnelle et Quantitative, Sorbonne University, Paris, France.
• ⁹ Genome Competence Center (MF1) - Robert Koch Institute, Berlin, Germany.
• ¹⁰ Centre Maladie Rare MAHREA, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
• ¹¹ Medicine Faculty, Paris Sorbonne University, Paris, France.