Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders. This study aimed to determine the pathogenetic mechanism of the MBOAT7 missense variant via molecular modeling. Three patients from...

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Detalles Bibliográficos
Autores principales: Lee, Jiwon, Shamim, Amen, Park, Jongho, Jang, Ja-Hyun, Kim, Ji Hye, Kwon, Jeong-Yi, Kim, Jong-Won, Kim, Kyeong Kyu, Lee, Jeehun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9058081/
https://www.ncbi.nlm.nih.gov/pubmed/35509994
http://dx.doi.org/10.3389/fneur.2022.836954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9058081/
https://www.ncbi.nlm.nih.gov/pubmed/35509994
http://dx.doi.org/10.3389/fneur.2022.836954

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