Detalhe da pesquisa
1.
Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.
J Biol Chem
; 295(36): 12755-12771, 2020 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719005
2.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
; 4(6)2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895940