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A novel exon 3 mutation in a Tunisian patient with Lafora's disease

✍ Scribed by H. Mrabet Khiari; G. Lesca; A. Malafosse; A. Mrabet

No coin nor oath required. For personal study only.

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Three Patients With Lafora Disease: Diff

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A novel mutation, Y103X, and exon skippi

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A Novel Exon 1 Mutation in a Patient wit

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METACHROMASIA IN FIBROBLASTS FROM A PATI

✍ Fluharty, ArvanL.; Porter, MynaT.; Hirsh, GraceA.; Pevida, Emilio; Kihara, Hayat 📂 Article 📅 1970 🏛 The Lancet 🌐 English ⚖ 294 KB

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A Novel MECP2 Gene Mutation in a Tunisia

✍ Fendri-Kriaa, Nourhène; Abdelkafi, Zaineb; Rebeh, Imen Ben; Kamoun, Fatma; Triki 📂 Article 📅 2009 🏛 Mary Ann Liebert 🌐 English ⚖ 232 KB