Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectua...

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Detalles Bibliográficos
Autores principales: Widowati, Esti Wahyu, Ernst, Sabrina, Hausmann, Ralf, Müller-Newen, Gerhard, Becker, Walter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936063/
https://www.ncbi.nlm.nih.gov/pubmed/29700199
http://dx.doi.org/10.1242/bio.032862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936063/
https://www.ncbi.nlm.nih.gov/pubmed/29700199
http://dx.doi.org/10.1242/bio.032862

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