A mouse model for Glut-1 haploinsufficiency
نویسندگان
چکیده
منابع مشابه
A mouse model for Glut-1 haploinsufficiency.
Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia. It is caused by haploinsufficiency of the blood-brain barrier hexose carrier. Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS. We generated a heterozygous haploinsufficient mouse model by targeted disruption of t...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2006
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddl032