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Article

Frameshift mutation in the collagen VI gene causes Ullrich's disease

30 Jul 2001

Abstract excerpt

Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a...

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PMID: 11506412
DOI: 10.1002/ana.1120

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