Literature DB >> 8401515

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

L A Clarke1, H S Scott.   

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Year:  1993        PMID： 8401515     DOI： 10.1093/hmg/2.8.1311

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Authors:  Paulina Nieves Cobos; Cordula Steglich; René Santer; Zoltan Lukacs; Andreas Gal
Journal:  JIMD Rep       Date:  2014-05-06

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.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  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
  4 in total

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