A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

Autosomal polycystic kidney disease (ADPKD) is a genetic disorder with two causal PKD-1 and PKD-2. Genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in African populations. We report a new mutation found in a 41-year old...

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Detalles Bibliográficos
Autores principales: Seck, Sidy Mohamed, Guèye, Serigne, Diouf, Boucar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703138/
https://www.ncbi.nlm.nih.gov/pubmed/23841043
http://dx.doi.org/10.5812/numonthly.6651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703138/
https://www.ncbi.nlm.nih.gov/pubmed/23841043
http://dx.doi.org/10.5812/numonthly.6651

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