✦ LIBER ✦

Generation of a mouse model for a peripheral neuropathy due to a missense mutation in the Krox20 gene

✍ Scribed by A. Desmazieres; L. Decker; P. Gilardi-Hebenstreit; P. Charnay; J.M. Vallat

Book ID: 116551641
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 82 KB
Volume: 24
Category: Article
ISSN: 0736-5748
DOI: 10.1016/j.ijdevneu.2006.09.225

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A mouse model with a missense mutation i

A mouse model with a missense mutation in ND6 for pre-Leber's hereditary optic neuropathy

✍ Chun Shi Lin; Mark Sharpley; Megan McManus; Eric Sung; Billy Phan; Fred Ross-Cis 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 56 KB

Male pseudohermaphroditism due to a homo

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

✍ Kremer, Hannie; Kraaij, Robert; Toledo, Sergio P.A.; Post, Miriam; Fridman, Juli 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 649 KB

Asymptomatic hyperCKemia in a case of Da

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

✍ Olimpia Musumeci; Carmelo Rodolico; Ichizo Nishino; Giuseppe Di Guardo; Alba Mig 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 77 KB

Congenital myasthenic syndrome due to a

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

✍ Carolin Schmidt; Angela Abicht; Klaus Krampfl; Wolfgang Voss; Rolf Stucka; Gina 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 254 KB

Familial neonatal Marfan syndrome due to

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

✍ Mustafa Tekin; Filiz Başak Cengiz; Eda Ayberkin; Tanıl Kendirli; Suat Fitoz; Erc 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB 👁 2 views

## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien

X-linked adrenomyeloneuropathy due to a

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

✍ Marc Engelen; Anneke J. van der Kooi; Stephan Kemp; Ronald J. A. Wanders; Erik A 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 453 KB