Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

Lignende værker

• Growth Hormone Deficiency and Splicing Fidelity: TWO SERINE/ARGININE-RICH PROTEINS, ASF/SF2 AND SC35, ACT ANTAGONISTICALLY
  af: Solis, Amanda S., et al.
  Udgivet: (2008)
• Determinants of the inherent strength of human 5′ splice sites
  af: ROCA, XAVIER, et al.
  Udgivet: (2005)
• Nonsense mutations and altered splice-site selection.
  af: Dietz, H C
  Udgivet: (1997)
• Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency
  af: Hanawa, H, et al.
  Udgivet: (2002)
• Regulation of alternative 3' splice site selection by constitutive splicing factors.
  af: Lin, C H, et al.
  Udgivet: (1995)