Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

Journal of Pediatric Genetics

Volumn 2, Issue 3, 2013, Pages 133-140

  Ramos Trujillo, Elena ^b   Claverie Martin, Felix ^b   Garcia Nieto, Victor ^a,b   Ariceta, Gema ^c   Vara, Julia ^d   Gonzalez Acosta, Hilaria ^b   Garcia Ramirez, Marta ^e   Fons, Jaime ^f   Cordoba Lanus, Elizabeth ^b   Gonzalez Paredes, Javier ^b   Valenciano, Blanca ^g   Ramos, Leticia ^g   Muley, Rafael ^d   Caggiani, Marina ^h   Alvarez Estrad, Pilar ⁱ   Madrid, Alvaro ^c   Yanes Luis, Maria I ^a   Javier Gonzalez Paredes, F ^a   Santos, Fernando ^a   Mejia, Natalia ^a   Coto, Eliecer ^a   Victoria Alvarez, María ^a   Gil, Helena ^a   Loredo, Vanessa ^a   Fuente, Rocio ^a   Rodriguez, Julian ^a   Ordoñez, Flor Angel ^a   Garcia, Enrique ^a   Castaño, Luis ^a   Madariaga, Leire ^a   De Nanclares Leal, Gustavo Perez ^a   Meñica, Mireia Aguirre ^a   Garcia Castaño, Alejandro ^a   more..

^a Nuestra Señora de Candelaria Hospital ^*

^b HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^c Section of Neuroradiology   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e Servicio de Radiodiagn?stico   (Spain)

^f Hospital Clinic   (Spain)

^g HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^h Centro Hospitalario Pereira Rossell   (Uruguay)

ⁱ HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

Author keywords

Hereditary tubular disorders; Hypercalciuria; Low molecular weight proteinuria; Mutation analysis; Nephrocalcinosis; Nephrolithiasis

Indexed keywords

EID: 85189328908     PISSN: 21464596     EISSN: 2146460X     Source Type: Journal    
DOI: 10.3233/PGE-13061     Document Type: Article

References (31)

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