Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

Biallelic variants in TOR1AIP1, encoding the integral nuclear membrane protein LAP1 (lamina-associated polypeptide 1) with two functional isoforms LAP1B and LAP1C, have initially been linked to muscular dystrophies with variable cardiac and neurological impairment. Furthermore, a recurrent homozygou...

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Detalles Bibliográficos
Autores principales: Lessel, Ivana, Chen, Mei-Jan, Lüttgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nürnberg, Peter, Korf, Bruce R., Kubisch, Christian, Lessel, Davor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078146/
https://www.ncbi.nlm.nih.gov/pubmed/32055997
http://dx.doi.org/10.1007/s00439-019-02105-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078146/
https://www.ncbi.nlm.nih.gov/pubmed/32055997
http://dx.doi.org/10.1007/s00439-019-02105-6

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