✦ LIBER ✦

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

✍ Scribed by Stavroula Psoni; Patrick J. Willems; Emmanuel Kanavakis; Ariadne Mavrou; Helen Frissyra; Joanne Traeger-Synodinos; Christalena Sofokleous; Periklis Makrythanassis; Sophia Kitsiou-Tzeli

Book ID: 113590439
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 135 KB
Volume: 14
Category: Article
ISSN: 1090-3798
DOI: 10.1016/j.ejpn.2009.03.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in exon 5 of the ALAS2

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia

✍ Matthew T. Hurford; Cristina Marshall-Taylor; Sandy L. Vicki; Jackie Z. Zhou; La 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 137 KB

A novel missense mutation in exon 3 of t

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

✍ Alberto E. Turco; Sandro Rossetti; M. Olivia Biasi; Gianfranco Rizzoni; Laura Ma 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB

A novel CDKL5 mutation in a 47,XXY boy w

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

✍ Stefano Sartori; Gabriella Di Rosa; Roberta Polli; Elisa Bettella; Giovanni Tric 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 3 views

A novel nonsense mutation in exon 2 of t

A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B

✍ Marcello Niceta; Carmelo Fabiano; Pietro Sammarco; Fabio Gagliano; Giacomo Mancu 📂 Article 📅 2006 🏛 Springer Milan 🌐 English ⚖ 87 KB

A novel mutation in exon 3 of the CFTR g

A novel mutation in exon 3 of the CFTR gene

✍ H. Guillermit; M. Jéhanne; I. Quéré; M. P. Audrézet; B. Mercier; C. Férec 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 368 KB

Late-onset CMT phenotype caused by a nov

Late-onset CMT phenotype caused by a novel mutation in the MPZ gene

✍ G. O'Connor; P. McNamara; D. Bradley; S. Connolly; Y. Langan; J. Redmond 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB