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Article

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

The Journal of biological chemistry - 22 Oct 2010

Tooley Leona D, Zamurs Laura K, Beecher Nicola, Baker Naomi L, Peat Rachel A, Adams Naomi E, Bateman John F, North Kathryn N, Baldock Clair, Lamandé Shireen R

Abstract excerpt

Collagen VI is an extracellular protein that most often contains the three genetically distinct polypeptide chains, α1(VI), α2(VI), and α3(VI), although three recently identified chains, α4(VI), α5(VI), and α6(VI), may replace α3(VI) in some situations. Each chain has a triple helix flanked by N-...

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Identifiers

PMID: 20729548
DOI: 10.1074/jbc.M110.152520
PMCID: PMC2963345

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20729548-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.PMID 20729548Read ↗

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