Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mi...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Autores principales: Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477361/
https://ncbi.nlm.nih.gov/pubmed/28327575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.32
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares