Homozygous splice variant (c.1741-6G > A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Barington, M; Duno, M; Birkedal, U; Vissing, J; Born, AP; Krag, T; Ostergaard, E

Barington, M (通讯作者),Rigshospitalet, Dept Genet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

NEUROMUSCULAR DISORDERS, 2023; 33 (7): 539

Abstract

The three major collagen VI genes: COL6A1, COL6A2 , and COL6A3 encode microfibrillar components of extracellular matrices in multiple tissues includin......

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