Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature-Reference-Cited by-同舟云学术

Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature

Published:2017-10 Issue:10 Volume:60 Page:541-547
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hamici Sana^ORCID,Bastaki Fatma,Khalifa Mohamed

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference37 articles.

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3. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

4. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

5. On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database;Apweiler;Biochim. Biophys. Acta,1999

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