A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. D...

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Detalles Bibliográficos
Autores principales: Bar, Daniel Z, Arlt, Martin F, Brazier, Joan F, Norris, Wendy E, Campbell, Susan E, Chines, Peter, Larrieu, Delphine, Jackson, Stephen P, Collins, Francis S, Glover, Thomas W, Gordon, Leslie B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Somatic Mosaicism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384422/
https://www.ncbi.nlm.nih.gov/pubmed/27920058
http://dx.doi.org/10.1136/jmedgenet-2016-104295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384422/
https://www.ncbi.nlm.nih.gov/pubmed/27920058
http://dx.doi.org/10.1136/jmedgenet-2016-104295

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