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Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
- Source :
- Clinical Genetics; Jun2017, Vol. 91 Issue 6, p932-933, 3p, 1 Graph
- Publication Year :
- 2017
-
Abstract
- A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 91
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 123283071
- Full Text :
- https://doi.org/10.1111/cge.12902