Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mut...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Rouzier, Cécile, Chaussenot, Annabelle, Serre, Valérie, Fragaki, Konstantina, Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Attarian, Shahram, Kaphan, Elsa, Cano, Aline, Delmont, Emilien, Sacconi, Sabrina, de Camaret, Bénédicte Mousson, Rio, Marlène, Lebre, Anne-Sophie, Jardel, Claude, Deschamps, Romain, Richelme, Christian, Pouget, Jean, Chabrol, Brigitte, Paquis-Flucklinger, Véronique
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953900/
https://ncbi.nlm.nih.gov/pubmed/23921535
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.171
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados