Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Thomas M. Humberstone"'
Autor:
Chris Lindsay, Rebecca Sitsapesan, Elisa Venturi, Paul D. Allen, Ahmed Alhussni, Thomas M. Humberstone, Charalampos Sigalas, Abigail D. Wilson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7422c37cb3e34670992b5c3407d98204
https://ora.ox.ac.uk/objects/uuid:14c046b3-4896-4d37-b812-3f3076257e3f
https://ora.ox.ac.uk/objects/uuid:14c046b3-4896-4d37-b812-3f3076257e3f
Autor:
Jan Eckhardt, Pawel Pelczar, Ahmed Alhussni, Thomas M. Humberstone, Christoph Bachmann, Susan Treves, Rebecca Sitsapesan, Alexis Ruiz, Abigail D. Wilson, Simona Boncompagni, Laura Pietrangelo, Elisa Venturi, Moran Elbaz, Francesco Zorzato, Chris Lindsay
Publikováno v:
Human Molecular Genetics. 28:2987-2999
Recessive ryanodine receptor 1 (RYR1) mutations cause congenital myopathies including multiminicore disease (MmD), congenital fiber-type disproportion and centronuclear myopathy. We created a mouse model knocked-in for the Q1970fsX16+A4329D RYR1 muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f238d432c7964b8980160ef0f06dde
https://doi.org/10.1093/hmg/ddz092
https://doi.org/10.1093/hmg/ddz092
