A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

• Authors: P T Tieu, K Menon, E F Neufeld
• Journal: Human mutation (Hum Mutat) Vol. 3 Issue 3 Pg. 333-6 ( 1994) ISSN: 1059-7794 [Print] United States
• PMID: 8019572 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon
• DNA Primers
• RNA, Messenger
• Iduronidase

Topics

• Base Sequence
• Cell Line
• Codon (genetics)
• DNA Primers
• Humans
• Iduronidase (genetics)
• Molecular Sequence Data
• Mucopolysaccharidosis I (enzymology, genetics)
• Mutation
• Polymerase Chain Reaction
• RNA, Messenger (analysis)