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Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard

Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two individuals from the Gaelic Irish Medieval burial ground of Ballyhanna, Co. Donegal, showed evidence of bone tumours consistent with the a...

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Detalles Bibliográficos
Autores principales: Jackson, Iseult, Mattiangeli, Valeria, Cassidy, Lara M, Murphy, Eileen, Bradley, Daniel G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905557/
https://www.ncbi.nlm.nih.gov/pubmed/36443465
http://dx.doi.org/10.1038/s41431-022-01219-2