Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201894.pdf
Reference10 articles.
1. Garrod AE : The Croonian lectures on inborn errors of metabolism. Lectures I, II, III, IV. Lancet 1908; II: 1–7, 73–79, 142–148 and 214–220.
2. Calonge MJ, Volpini V, Bisceglia L et al: Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 1995; 92: 9667–9671.
3. Gold RJ, Dobrinski MJ, Gold DP : Cystinuria mental deficiency. Clin Genet 1977; 12: 329–332.
4. Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. Am J Hum Genet 2001; 69: 869–875.
5. Jaeken J, Martens K, François I et al: Deletion of PREPL, a gene encoding a putative serine oligopeptidase,in patients with hypotonia–cystinuria syndrome. Am J Hum Genet 2006; 78: 38 –51.
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