Author:
Jaeken J.,Detheux M.,Van Maldergem L.,Frijns J. P.,Alliet P.,Foulon M.,Carchon H.,Van Schaftingen E.
Subject
Genetics(clinical),Genetics
Reference7 articles.
1. Ewart AK, Morris CA, Atkinson D, et al (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.Nature Genet 5: 11–16.
2. Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (in press). 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.Arch Dis Child.
3. Koch G, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (1983) Assignment of the human phosphoserine phosphatase gene (PSP) to the pter → q22 region of chromosome 7.Cytogenet Cell Genet 35: 67–69.
4. Novelli G, Dallapicola B (1988) Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.Ann Génét 31: 195–196.
5. Scriver CR, Beaudet AL, Sly WS, Valle D (1995) Amino acids. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1015–1368.
Cited by
42 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