Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

Alexander disease is a leukodystrophy caused by heterozygous mutations of GFAP gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the use of DNA isolated from peripheral blood, next-generation sequencing (NGS) of...

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Detalles Bibliográficos
Autores principales: Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688950/
https://www.ncbi.nlm.nih.gov/pubmed/34950187
http://dx.doi.org/10.3389/fgene.2021.744068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688950/
https://www.ncbi.nlm.nih.gov/pubmed/34950187
http://dx.doi.org/10.3389/fgene.2021.744068

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