✦ LIBER ✦

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

✍ Scribed by Wakil, Salma M.; Bohlega, Saeed; Hagos, Samya; Baz, Batoul; Al Dossari, Haya; Ramzan, Khushnooda; Al-Hassnan, Zuhair N.

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel splice site mutation of SPG4 in a

✍ Liu, Xiaomin; Tang, Jiyou 📂 Article 📅 2014 🏛 Springer Milan 🌐 English ⚖ 406 KB

A novel mutation in PLP1 causes severe h

✍ Noetzli, Leila; Sanz, Pablo G.; Brodsky, Gary L.; Hinckley, Jesse D.; Giugni, Ju 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 701 KB

A novel splicing mutation (c.870+3A>G) i

✍ Jae-Sung Lim; Jung-Joon Sung; Yoon-Ho Hong; Seoung-Sup Park; Kyung-Seok Park; Je 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 627 KB

An ALS2 gene mutation causes hereditary

✍ François Gros-Louis; Inge A. Meijer; Collette K. Hand; Marie-Pierre Dubé; Daune 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Hereditary spastic paraplegia caused by

✍ de Bot, S. T.; Schelhaas, H. J.; Kamsteeg, E.-J.; van de Warrenburg, B. P. C. 📂 Article 📅 2012 🏛 Oxford University Press 🌐 English ⚖ 89 KB

A novel mutation in KIF5A gene causing h

✍ Olimpia Musumeci; Maria Teresa Bassi; Anna Mazzeo; Marina Grandis; Claudia Crime 📂 Article 📅 2010 🏛 Springer Milan 🌐 English ⚖ 296 KB