A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness-Reference-Cited by-同舟云学术

A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Published:2015-01-15 Issue:3 Volume:60 Page:163-164
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yim Shin-Young,Jeong Seon-Yong

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2014119.pdf

Reference10 articles.

1. Pelin, K ., Kiiski, K ., Lehtokari, V. L. & Wallgren-Pettersson, C. A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J. Hum. Genet 60, 161–162 (2015).

2. Jin, H. S ., Lee, J. B ., Kim, K ., Lee, K. Y ., Choi, V. N ., Kim, J. S. et al. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J. Hum. Genet 59, 643–647 (2014).

3. Lehtokari, V. L ., Kiiski, K ., Sandaradura, S. A ., Laporte, J ., Repo, P ., Frey, J. A. et al. Mutation update: the spectra of nebulin variants and associated myopathies. Hum. Mutat. 35, 1418–1426 (2014).

4. Donner, K ., Nowak, K. J ., Aro, M ., Pelin, K. & Wallgren-Pettersson, C. Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128. Genomics 88, 489–495 (2006).

5. Kneussel, M ., Triller, A. & Choquet, D. SnapShot: receptor dynamics at plastic synapses. Cell 157, 1738–1738 e1731 (2014).