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...
| Auteurs principaux: | , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
Springer Nature
2017
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