Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

Παρόμοια τεκμήρια

• A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa
  ανά: Zimmermann, Anca, κ.ά.
  Έκδοση: (2016)
• The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa
  ανά: Qu, Qianqian, κ.ά.
  Έκδοση: (2020)
• The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
  ανά: Jing Wang, κ.ά.
  Έκδοση: (2022-05-01)
• A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease
  ανά: Cheng, Alan, κ.ά.
  Έκδοση: (2007)
• Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient
  ανά: Sentner, Christiaan P., κ.ά.
  Έκδοση: (2011)