- Tytuł:
- A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.
- Autorzy:
- Źródło:
- BMC medical genetics [BMC Med Genet] 2010 Jan 05; Vol. 11, pp. 3. Date of Electronic Publication: 2010 Jan 05.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Codon, Nonsense*
Frameshift Mutation*
Glycogen Storage Disease/*genetics
Glycogen Synthase/*genetics
Base Sequence ; Blood Glucose/analysis ; Child ; Exons ; Fasting ; Female ; Glycogen Storage Disease/diagnosis ; Heterozygote ; Humans ; Insulin/analysis ; Introns ; Lactic Acid/analysis ; Phenotype ; Sequence Analysis, DNA
Czasopismo naukowe