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Article

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

Human mutation - 1 May 2009

Martoni Elena, Urciuolo Anna, Sabatelli Patrizia, Fabris Marina, Bovolenta Matteo, Neri Marcella, Grumati Paolo, D'Amico Adele, Pane Marika, Mercuri Eugenio, Bertini Enrico, Merlini Luciano, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca

Abstract excerpt

Splicing mutations occurring outside the invariant GT and AG dinucleotides are frequent in disease genes and the definition of their pathogenic potential is often challenging. We have identified four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6...

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PMID: 19309692
DOI: 10.1002/humu.21022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19309692-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.PMID 19309692Read ↗

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