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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Detalhes bibliográficos
Publicado no: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 em: American Society of Nephrology 2016
Assuntos:
Brief Communications
Acesso em linha: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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