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

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:2014-10-09 Issue:12 Volume:59 Page:643-647
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Jin Hyun-Seok,Lee Jong-Bin,Kim Kyung,Lee Ki-Young,Choi Vit-Na,Kim Jong-Soo,Jeong Seon-Yong,Yim Shin-Young

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201487.pdf

Reference23 articles.

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3. Ku CS, Naidoo N & Pawitan Y Revisiting Mendelian disorders through exome sequencing. Hum. Genet. 129, 351–370 (2011).

4. Epi4K Consortium ; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217–221.

5. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921–1929 (2012).

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