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1
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Hum Genet. 2008 Oct;124(3):303.
2
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Hum Genet. 2008 Oct;124(3):303.
3
[Argininosuccinate lyase deficiency].
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):179-81.
4
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
J Inherit Metab Dis. 2000 Jun;23(4):308-12. doi: 10.1023/a:1005690005439.
5
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Hum Genet. 2008 Oct;124(3):317.
6
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
Proc Natl Acad Sci U S A. 1978 Dec;75(12):6159-62. doi: 10.1073/pnas.75.12.6159.
7
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25.
8
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Hum Genet. 2008 Oct;124(3):317.
9
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Hum Genet. 2002 Oct;111(4-5):350-9. doi: 10.1007/s00439-002-0793-4. Epub 2002 Aug 14.
10
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
J Inherit Metab Dis. 2015 Sep;38(5):815-27. doi: 10.1007/s10545-014-9807-3. Epub 2015 Mar 17.
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