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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

Foley, AR; Donkervoort, S; Bolduc, V; Hu, Y; Cummings, B; Lek, M; Sarkozy, A; ... Bonnemann, C; + view all (2017) A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

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Type: Conference item (UNSPECIFIED)
Title: A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy
Event: 22nd International Annual Congress of the World-Muscle-Society (WMS)
Location: Saint Malo, FRANCE
Dates: 03 October 2017 - 07 October 2017
DOI: 10.1016/j.nmd.2017.06.055
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/10035081
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