Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months...

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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Yamamoto, Toshiyuki, Shimojima, Keiko, Shibata, Takashi, Akiyama, Mari, Oka, Makio, Akiyama, Tomoyuki, Yoshinaga, Harumi, Kobayashi, Katsuhiro
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
Onderwerpen:
Data Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785535/
https://ncbi.nlm.nih.gov/pubmed/27081553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.48
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