Literature DB >> 16542395

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.

X Schneider-Yin, U Szlendak, A I Lipniacka, E I Minder, A Gregor.   

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Year:  2006        PMID： 16542395     DOI： 10.1111/j.1399-0004.2006.00575.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.

Authors:  Helene J Bustad; Juha P Kallio; Mikko Laitaoja; Karen Toska; Inari Kursula; Aurora Martinez; Janne Jänis
Journal:  iScience       Date:  2021-02-06
  1 in total

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