A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

BACKGROUND: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive muscular wasting,...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:EBioMedicine
Main Authors: Meinke, Peter, Kerr, Alastair R.W., Czapiewski, Rafal, de las Heras, Jose I., Dixon, Charles R., Harris, Elizabeth, Kölbel, Heike, Muntoni, Francesco, Schara, Ulrike, Straub, Volker, Schoser, Benedikt, Wehnert, Manfred, Schirmer, Eric C.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Research paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7000448/
https://ncbi.nlm.nih.gov/pubmed/31862442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2019.11.048
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker