Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC ) missense mutations
Author:
Affiliation:
1. Instituto de Biomedicina de Valencia (IBV-CSIC); Valencia Spain
2. Group 739 of the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII); Madrid Spain
Funder
Valencian Government
Spanish Government
Secretaría de Estado de Investigación, Desarrollo e Innovación
Generalitat Valenciana
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010
2. Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy;Darin;American Journal of Human Genetics,2016
3. Features and development of Coot;Emsley;Acta Crystallographica Section D: Biological Crystallography,2010
4. Structure of a yeast hypothetical protein selected by a structural genomics approach;Eswaramoorthy;Acta Crystallographica Section D: Biological Crystallography,2003
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