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G.P.1 08 Phenotype–genotype correlation in two families with muscle phosphofructokinase deficiency

✍ Scribed by A. Toscano; C. Bruno; O. Musumeci; C. Rodolico; D. Cassandrini; M. Aguennouz; L. Serlenga; S. Zoccolella; A. Amati; G. Vita

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

G.P.18.01 Giant axonal neuropathy: Pheno

✍ M. Tazir; K. Hühne; S. Nouioua; D. Grid; T. Hamadouche; B. Rautenstrauss; M. Val 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 48 KB

Identification of mutation c.632G>A (p.G

✍ Feng-Yan Lu; Ling Xu; Xun-Guo Yin; Ping Wan; Xiao-De Zhang; Wei-Wen Chen; Shao-P 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB

G.P.14.13 Phenotypic characterization of

✍ A. Sarkozy; K. Bushby; D. Hilton-Jones; C.F. Dougan; H. Lochmüller; C. Windpassi 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 50 KB