Associated Papers
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
Kim J et al.
Neuromuscular Disorders : Nmd, 2012
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N et al.
Neuromuscular Disorders : Nmd, 2010
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL et al.
Annals of Neurology, 2007
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK et al.
Journal of Medical Genetics, 2005
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2B-ClinVar_COL6A1
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