✦ LIBER ✦

34 A “DE NOVO” MUTATION OF LDLR GENE CAUSING SEVERE HYPERCHOLESTEROLEMIA

✍ Scribed by C. Danovaro; L. Pisciotta; A. Bellocchio; R. Fresa; V. Guido; R. Sallo; E. Pino; F. De Stefano; S. Bertolini

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

[93] A NOVEL ITALIAN NONSENSE MUTATION O

✍ L. Pisciotta; R. Fresa; S. Airaldi; S. Bertolini 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 56 KB

A “de novo” mutation of the LDL-receptor

✍ Livia Pisciotta; Alfredo Cantafora; Francesco De Stefano; Silvia Langheim; Sebas 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 170 KB

A new de novo mutation in the GCK gene c

✍ Alessia Cappelli; Serena Silvestri; Stefano Tumini; Silvia Carinci; Paola Cipria 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 380 KB

Mo-P6:411 Novel approaches to the detect

✍ Cantafora, A.; Blotta, I.; Pisciotta, L.; Careri, R.; Calandra, S.; Bertolini, S 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 153 KB

A De Novo Mutation in the AGXT Gene Caus

✍ Emma L. Williams; Markus J. Kemper; Gill Rumsby 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 84 KB

A de novo mutation in the lipoprotein li

✍ E.E.G. Appelman; S.M. Bijvoet; H. Wiebusch; Y. Ma; P.W.A. Reymer; T. Bruin; M.R. 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 152 KB