Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease.
Kidney Int
; 97(2): 261-263, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31980075
ABSTRACT
Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Rim Policístico Autossômico Dominante
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article