Causative variant profile of collagen VI-related dystrophy in Japan

BACKGROUND: Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative variants are de novo; therefore, to identify possible...

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Detalles Bibliográficos
Autores principales: Inoue, Michio, Saito, Yoshihiko, Yonekawa, Takahiro, Ogawa, Megumu, Iida, Aritoshi, Nishino, Ichizo, Noguchi, Satoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223365/
https://www.ncbi.nlm.nih.gov/pubmed/34167565
http://dx.doi.org/10.1186/s13023-021-01921-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223365/
https://www.ncbi.nlm.nih.gov/pubmed/34167565
http://dx.doi.org/10.1186/s13023-021-01921-2

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