A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85–90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10–15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also assoc...

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Detalles Bibliográficos
Autores principales: Litvinchuk, Tetiana, Tao, Yunxia, Singh, Ruchi, Vasylyeva, Tetyana L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4598801/
https://www.ncbi.nlm.nih.gov/pubmed/26501044
http://dx.doi.org/10.3389/fped.2015.00082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4598801/
https://www.ncbi.nlm.nih.gov/pubmed/26501044
http://dx.doi.org/10.3389/fped.2015.00082

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