Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene-Reference-Cited by-同舟云学术

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

Published:2000-06 Issue:4 Volume:23 Page:308-312
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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

Affiliation:

1. Universität Kinderklinik Muenster; Albert-Schweitzer-Str. 33 Muenster 48149 Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005690005439/fullpdf

Reference10 articles.

1. Characterization of the human argininosuccinate lyase gene and analysis of exon skipping;Abramson;Genomics,1991

2. Analysis of naturally occurring and sitedirected mutations in the argininosuccinate lyase gene;Barbosa;J Biol Chem,1991

3. Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site;Howell;J Inherit Metab Dis,1998

4. Cloning and sequence analysis of cDNA for human argininosuccinate lyase;O'Brien;Proc Natl Acad Sci USA,1986

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