Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile

Lignende værker

• Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10
  af: Pingault, Veronique, et al.
  Udgivet: (2014)
• A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)
  af: Wang, Xin Hua, et al.
  Udgivet: (2020)
• Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
  af: He, Ming-Fang, et al.
  Udgivet: (2021)
• Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile
  af: Lin, Yung-Shuan, et al.
  Udgivet: (2020)
• Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
  af: Loo, Benny Kai Guo, et al.
  Udgivet: (2018)