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Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. Clement EM, et al. Among authors: abbs s. Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2. Arch Neurol. 2008. PMID: 18195152
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, Eady RA, McGrath JA. Whittock NV, et al. Among authors: abbs sj. J Invest Dermatol. 1999 Oct;113(4):673-86. doi: 10.1046/j.1523-1747.1999.00732.x. J Invest Dermatol. 1999. PMID: 10504458
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