Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Lignende værker

• A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome
  af: Yang, Yang, et al.
  Udgivet: (2020)
• Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
  af: Alfadhel, Majid, et al.
  Udgivet: (2014)
• Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
  af: Bustad, Helene J., et al.
  Udgivet: (2021)
• Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
  af: Chen, Brenden, et al.
  Udgivet: (2016)
• Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy
  af: Dai, Yi, et al.
  Udgivet: (2018)