Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of <i>PKD1</i> Hypomorphic Alleles.

Ambrosini, Enrico; Montanari, Francesca; Cristalli, Carlotta Pia; Capelli, Irene; La Scola, Claudio; Pasini, Andrea; Graziano, Claudio

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Ambrosini, Enrico; Montanari, Francesca; Cristalli, Carlotta Pia; Capelli, Irene; La Scola, Claudio; Pasini, Andrea; Graziano, Claudio.

Ambrosini E; Medical Genetics Unit, University of Parma, 43126 Parma, Italy.
Montanari F; Medical Genetics Unit, IRCCS Sant'Orsola University Hospital of Bologna, 40138 Bologna, Italy.
Cristalli CP; Medical Genetics Unit, IRCCS Sant'Orsola University Hospital of Bologna, 40138 Bologna, Italy.
Capelli I; Nephrology Unit, IRCCS Sant'Orsola University Hospital of Bologna, 40138 Bologna, Italy.
La Scola C; Paediatric Nephrology Program, Paediatrics Unit, IRCCS Sant'Orsola University Hospital of Bologna, 40138 Bologna, Italy.
Pasini A; Paediatric Nephrology Program, Paediatrics Unit, IRCCS Sant'Orsola University Hospital of Bologna, 40138 Bologna, Italy.
Graziano C; Medical Genetics Unit, AUSL Romagna, 47522 Cesena, Italy.

Genes (Basel) ; 14(6)2023 06 07.

Article en En | MEDLINE | ID: mdl-37372410

Asunto(s)

Riñón Poliquístico Autosómico Dominante; Adulto; Humanos; Alelos; Mutación Missense; Gravedad del Paciente; Riñón Poliquístico Autosómico Dominante/genética; Riñón Poliquístico Autosómico Dominante/diagnóstico; Canales Catiónicos TRPP/genética

Palabras clave

ADPKD; PKD1; PKD2; biallelic inheritance; disease modifiers; hypomorphic variants

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Año: 2023 Tipo del documento: Article

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