Johansen, Anide

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. [electronic resource] - American journal of human genetics Oct 2016 - 912-916 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2016.07.019 doi


Acyltransferases--genetics
Arachidonic Acid--metabolism
Autistic Disorder--complications
Child
Child, Preschool
Consanguinity
Epilepsy--complications
Female
Homozygote
Humans
Infant
Intellectual Disability--complications
Lysophospholipids--metabolism
Male
Membrane Proteins--genetics
Mutation
Pedigree
Phosphatidylinositols--metabolism