Literature DB >> 8019572

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

P T Tieu1, K Menon, E F Neufeld.   

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Year:  1994        PMID： 8019572     DOI： 10.1002/humu.1380030330

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

Authors:  G J Lee-Chen; T R Wang
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

2.  Enzyme replacement in a canine model of Hurler syndrome.

Authors:  R M Shull; E D Kakkis; M F McEntee; S A Kania; A J Jonas; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1994-12-20       Impact factor: 11.205

3.  Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Authors:  E Yu Voskoboeva; T M Bookina; A N Semyachkina; S V Mikhaylova; N D Vashakmadze; G V Baydakova; E Yu Zakharova; S I Kutsev
Journal:  Front Mol Biosci       Date:  2022-01-24
  3 in total

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