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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |