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P1.12 Frequency of genomic deletion mutations in collagen VI myopathies

✍ Scribed by R.J. Butterfield; K. Swoboda; K.M. Flanigan; C.G. Bonnemann; R.B. Weiss

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

P.1.2 Natural history of pulmonary funct

✍ Foley, A.R.; Quijano-Roy, S.; Collins, J.; Straub, V.; McCallum, M.; Deconinck, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 61 KB

P.P.7 06 Pronounced phenotypic variabili

✍ Y. Hu; Y. Zou; S. Quijano-Roy; A. Lampe; A. Barois; G. Tennekoon; R.S. Finkel; K 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 56 KB

A Heterozygous Splice Site Mutation in C

✍ Guglielmina Pepe; Betti Giusti; Enrico Bertini; Tamara Brunelli; Biagio Saitta; 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 190 KB

G.P.22 Possible mutation dependent mecha

✍ Donkervoort, S.; Hu, Y.; Dastgir, J.; Meilleur, K.; Zou, Y.; Foley, A.R.; Harper 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 49 KB

P1.11 Large genomic deletions as a novel

✍ A.R. Foley; Y. Hu; Y. Zou; M. Yang; L. Medne; M. Leach; L. Conlin; N. Spinner; T 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 48 KB

G.P.12.10 Repeat muscle biopsy in the di

✍ R.M. Hung; C.E. Hawkins; G. Yoon; D. Biggar; J. Vajsar 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 41 KB