Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

Ricardo A Maselli, J. Arredondo, J. Nguyen, M. Lara, F. Ng, M. Ngo, J. M. Pham, Q. Yi, J. M. Stajich, K. Mcdonald, M. A. Hauser, R. L. Wollmann

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Medicine & Life Sciences