Beyond polycystic kidney disease

Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which si...

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Detalles Bibliográficos
Autores principales: Santos, Susana Franco, Francisco, Telma, Cordeiro, Ana Isabel, Lopes, Maria João Paiva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Rare Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652519/
https://www.ncbi.nlm.nih.gov/pubmed/28978585
http://dx.doi.org/10.1136/bcr-2017-220766

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652519/
https://www.ncbi.nlm.nih.gov/pubmed/28978585
http://dx.doi.org/10.1136/bcr-2017-220766

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