2p21 Deletions in hypotonia–cystinuria syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference6 articles.
1. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome;Jaeken;Am. J. Hum. Genet.,2006
2. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome;Martens;Eur. J. Hum. Genet.,2007
3. Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype;Saadi;Kidney Int.,1998
4. A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and mitochondrial disease;Parvari;Am. J. Hum. Genet.,2001
5. Deletion of the C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome;Chabrol;J. Med. Genet.,2008
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