Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

BACKGROUND: ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with PKD2 mutations predicting later onset of ESRF by up to 20 years. We the...

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Detalles Bibliográficos
Autores principales: Robinson, Caroline, Hiemstra, Thomas F, Spencer, Deborah, Waller, Sarah, Daboo, Laura, Karet Frankl, Fiona E, Sandford, Richard N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502417/
https://www.ncbi.nlm.nih.gov/pubmed/22863349
http://dx.doi.org/10.1186/1471-2369-13-79

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502417/
https://www.ncbi.nlm.nih.gov/pubmed/22863349
http://dx.doi.org/10.1186/1471-2369-13-79

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