A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive <em>COL6A</em> mutations

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations Lookup NU author(s) Dr Anne Lampe Professor Katherine Bushby Dr Debbie Hicks



Author(s)		Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F
Publication type		Article
Journal		Neuromuscular Disorders
Year		2006
Volume		16
Issue		9-10
Pages		571-582
ISSN (print)		0960-8966
ISSN (electronic)		1873-2364



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Publisher		Elsevier
URL		http://dx.doi.org/10.1016/j.nmd.2006.07.015
DOI		10.1016/j.nmd.2006.07.015

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A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations