A novel C‐terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation-Reference-Cited by-同舟云学术

A novel C‐terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

Published:2018-09-17 Issue:1 Volume:72 Page:22-30
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Jdila Marwa Ben¹²,Triki Chahnez²³,Rhouma Bochra Ben³,Jomaa Rihab Ben²³,Issa Abir Ben¹⁴,Ammar‐Keskes Leila⁴,Kamoun Fatma²³,Fakhfakh Faiza¹

Affiliation:

1. Laboratory of Molecular and Functional GeneticsFaculty of Science of SfaxUniversity of SfaxTunisia

2. Research Unit ‘NeuroPédiatric’ (UR12ES 16)Universitary Hedi Chaker of SfaxTunisia

3. Child Neurology DepartmentUniversitary Hedi Chaker of SfaxTunisia

4. Laboratory of Human Molecular GeneticsFaculty of Medicine of SfaxUniversity of SfaxTunisia

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.ijdevneu.2018.09.006

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