Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2000 Jun;23(4):308-12.
doi: 10.1023/a:1005690005439.

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

M Linnebank  1 , A Homberger, B Rapp, C Winter, T Marquardt, E Harms, H G Koch
Affiliations
Case Reports

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

M Linnebank et al. J Inherit Metab Dis. 2000 Jun.
No abstract available

PubMed Disclaimer

References

    1. Genomics. 1989 Jan;4(1):53-9 - PubMed
    1. J Inherit Metab Dis. 1998;21 Suppl 1:72-85 - PubMed
    1. J Biol Chem. 1997 Mar 7;272(10):6777-83 - PubMed
    1. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9063-8 - PubMed
    1. J Biol Chem. 1991 Mar 15;266(8):5286-90 - PubMed

Publication types

MeSH terms

LinkOut - more resources