Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1)...

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Detalles Bibliográficos
Publicado en:J Am Soc Nephrol
Main Authors: Audrézet, Marie-Pierre, Corbiere, Christine, Lebbah, Said, Morinière, Vincent, Broux, Françoise, Louillet, Ferielle, Fischbach, Michel, Zaloszyc, Ariane, Cloarec, Sylvie, Merieau, Elodie, Baudouin, Véronique, Deschênes, Georges, Roussey, Gwenaelle, Maestri, Sandrine, Visconti, Chiara, Boyer, Olivia, Abel, Carine, Lahoche, Annie, Randrianaivo, Hanitra, Bessenay, Lucie, Mekahli, Djalila, Ouertani, Ines, Decramer, Stéphane, Ryckenwaert, Amélie, Cornec-Le Gall, Emilie, Salomon, Rémi, Ferec, Claude, Heidet, Laurence
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Nephrology 2016
Assuntos:
Brief Communications
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4769188/
https://ncbi.nlm.nih.gov/pubmed/26139440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2014101051
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