A novel C-terminal truncated mutation in hCDKL5 protein...

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International Journal of Developmental Neuroscience 2018 / 9

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

Jdila, Marwa Ben, Triki, Chahnez, Rhouma, Bochra Ben, Jomaa, Rihab Ben, Issa, Abir Ben, Ammar-Keskes, Leila, Kamoun, Fatma, Fakhfakh, Faiza
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Language:
english
Journal:
International Journal of Developmental Neuroscience
DOI:
10.1016/j.ijdevneu.2018.09.006
Date:
September, 2018
File:
PDF, 1.06 MB
english, 2018
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