Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease within a family characterized by otherwise typical ADPKD. Coinheritance of a hypomorphic PKD1 allele in trans with an inactivatin...

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Detalles Bibliográficos
Autores principales: Vujic, Mihailo, Heyer, Christina M., Ars, Elisabet, Hopp, Katharina, Markoff, Arseni, Örndal, Charlotte, Rudenhed, Bengt, Nasr, Samih H., Torres, Vicente E., Torra, Roser, Bogdanova, Nadja, Harris, Peter C.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Nephrology 2010
Materias:
Brief Communication
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3152226/
https://ncbi.nlm.nih.gov/pubmed/20558538
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009101070
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