Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Benzer Materyaller

• PCR of a KpnI RFLP in the α-L-iduronidase (IDUA) gene
  Yazar:: Scott, H.S., ve diğerleri
  Baskı/Yayın Bilgisi: (1991)
• Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
  Yazar:: Scott, H S, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)
• Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
  Yazar:: Ahmed, Alia, ve diğerleri
  Baskı/Yayın Bilgisi: (2013)
• The Defect in the Hurler and Scheie Syndromes: Deficiency of α-L-Iduronidase
  Yazar:: Bach, Gideon, ve diğerleri
  Baskı/Yayın Bilgisi: (1972)
• Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
  Yazar:: Lee-Chen, G J, ve diğerleri
  Baskı/Yayın Bilgisi: (1997)