A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

Defective glycosylphosphatidylinositol (GPI)‐anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 parent–child trios and 1,792 singletons from the DDD...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6001798/
https://ncbi.nlm.nih.gov/pubmed/29573052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23420
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