𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

✍ Scribed by Simon, Amos J.; Lev, Atar; Jeison, Marta; Borochowitz, Zvi U.; Korn, David; Lerenthal, Yaniv; Somech, Raz


Book ID
121545207
Publisher
Springer
Year
2013
Tongue
English
Weight
583 KB
Volume
34
Category
Article
ISSN
0271-9142

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical variability and novel mutations
✍ VΓ©ronique Dutrannoy; Ilja Demuth; Ulrich Baumann; Detlev Schindler; Kateryna Kon πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 463 KB

We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very rece

Novel SOD1 N86K mutation is associated w
✍ Marcus Beck; Michael Sendtner; Klaus V. Toyka πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 259 KB

## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a