New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagn...

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Detalles Bibliográficos
Autores principales: Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792983/
https://www.ncbi.nlm.nih.gov/pubmed/24130795
http://dx.doi.org/10.1371/journal.pone.0076831

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792983/
https://www.ncbi.nlm.nih.gov/pubmed/24130795
http://dx.doi.org/10.1371/journal.pone.0076831

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