Causative variant profile of collagen VI-related dystrophy in Japan.

Michio InoueYoshihiko SaitoTakahiro YonekawaMegumu OgawaAritoshi IidaIchizo NishinoSatoru Noguchi

Published in: Orphanet journal of rare diseases (2021)

We report the causative variant profile of a large set of Japanese cases of collagen VI-related dystrophy. This dataset can be used as a reference to support genetic diagnosis and variant-specific treatment.

Keyphrases

early onset
wound healing
genome wide
gene expression
tissue engineering
dna methylation
combination therapy
replacement therapy
smoking cessation