Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics

BACKGROUND: Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessive, syndromic disorders also involve PKD but have a range of pleiotropic phenot...

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Autores principales: Vazifehmand, Reza, Rossetti, Sandro, Saber, Sassan, Khorshid, Hamid Reza Khorram, Harris, Peter C
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3846117/
https://ncbi.nlm.nih.gov/pubmed/24011172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-190
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