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Collagen VI deficiency in Ullrich's disease

✍ Scribed by Itsuro Higuchi; Masahito Suehara; Hiroyuki Iwaki; Masanori Nakagawa; Kimiyoshi Arimura; Mitsuhiro Osame

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 909 KB
Volume: 49
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.109

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## Abstract Ultrastructural alterations of collagen VI in cultured fibroblasts and reduced collagen VI immunostaining in the papillary dermis and endomysium were detected in a patient with a mild form of Ullrich congenital muscular dystrophy caused by a __COL6A3__ gene mutation. The patient had bee