Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome-Reference-Cited by-同舟云学术

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome

Published:2007-06-20 Issue:10 Volume:15 Page:1029-1033
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Martens Kevin,Heulens Inge,Meulemans Sandra,Zaffanello Marco,Tilstra David,Hes Frederik J,Rooman Raoul,François Inge,de Zegher Francis,Jaeken Jaak,Matthijs Gert,Creemers John W M

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201881.pdf

Reference11 articles.

1. Jaeken J, Martens K, Francois 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.

2. Clara R, Lowenthal A : Familial aminoaciduria with muscular hypotonia and dwarfism. Bull Acad R Med Belg 1966; 6: 577–611.

3. 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.

4. Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E : The 2p21 deletion syndrome: characterization of the transcription content. Genomics 2005; 86: 195–211.

5. Martens K, Derua R, Meulemans S et al: PREPL: a putative novel oligopeptidase propelled into the limelight. Biol Chem 2006; 387: 879–883.

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