Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

Lignende værker

• Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families
  af: Yu, Fang, et al.
  Udgivet: (2019)
• Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
  af: Loo, Benny Kai Guo, et al.
  Udgivet: (2018)
• Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
  af: Liu, Zhimei, et al.
  Udgivet: (2019)
• Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
  af: Zhimei Liu, et al.
  Udgivet: (2019-03-01)
• Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
  af: Jin, Jie-Yuan, et al.
  Udgivet: (2020)