Identity-by-descent analysis of CMTX3 links three families through a common founder

A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD to perform genome-wide identity-by-descent (IBD) analysis on...

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Detalles Bibliográficos
Autores principales: Henden, Lyndal, Grosz, Bianca R., Ellis, Melina, Nicholson, Garth A., Kennerson, Marina, Williams, Kelly L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/
https://www.ncbi.nlm.nih.gov/pubmed/36100665
http://dx.doi.org/10.1038/s10038-022-01078-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/
https://www.ncbi.nlm.nih.gov/pubmed/36100665
http://dx.doi.org/10.1038/s10038-022-01078-1

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