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Collagen VI mutations: A review of 54 patients.
Matrix Biology
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2008
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Tooley, L, Baker, NL, Pace, RA, Zamurs, L, Lamande, SR.
Collagen VI A-domain changes: Mutations or polymorphisms?.
Matrix Biology
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2008
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Pace, RA, Peat, RA, Baker, NL, Zamurs, L, Mörgelin, M, Irving, M, Adams, NE, Bateman, JF, Mowat, D, Smith, NJC, et al.
Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity.
Annals of Neurology
64(3)
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2008
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Peat, RA, Gécz, J, Fallon, JR, Tarpey, PS, Smith, R, Futreal, A, Stratton, MR, Lamandé, SR, Yang, N, North, KN.
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.
Neuromuscular Disorders
18(8)
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606 -609
2008
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Peat, RA, Smith, JM, Compton, AG, Baker, NL, Pace, RA, Burkin, DJ, Kaufman, SJ, Lamandé, SR, North, KN.
Diagnosis and etiology of congenital muscular dystrophySYMBOL.
Neurology
71(5)
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2008
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