Author:
Al-Sayed M.,AlAhmed S.,Alsmadi O.,Khalil H.,Rashed M. S.,Imtiaz F.,Meyer B. F.
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle, D (eds); Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. 2. New York: McGraw-Hill, pp. 1909–1964.
2. Dean FB, Hosono S, Fang L, Wu X, Faruqi AF (2002) Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci. 99(8): 5261–5266.
3. Kleijer WJ, Garritsen VH, Linnebank M, et al (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families. J Inherit Metab Dis 25: 399–410.
4. Linnebank M, Homberger A, Rapp B, et al (2000) 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 23: 308–312.
5. Linnebank M, Tschiedel E, Haberle J, et al (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet 111: 350–359.
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献