Citations for
1HCYS, PREPL, SLC3A1, C2orf34
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.
J Med Genet 45(5):314-8. Epub 2008 Jan 30. 2008
2SLC3A1, PREPL, HCYS
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, Francois I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.
Eur J Hum Genet 15(10):1029-1033. Epub 2007 Jun 20. 2007
3PREPL, HCYS
Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome.
Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, Zegher F, Creemers JW, Matthijs G.
Am J Hum Genet 78(1):38-51. Epub 2005 Nov 23. 2006
4PREPL
PREPL: a putative novel oligopeptidase propelled into the limelight.
Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW.
Biol Chem 387(7):879-83. Review. 2006
5HCYS,PPM1B,PREPL,SLC3A1
The 2p21 deletion syndrome: characterization of the transcription content.
Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E.
Genomics 86(2):195-211. 2005
6ADCY6, AP5Z1, APAF1, ATG2A, ATMIN, BSN, CACNA1G, CCNA1, CCP110, CCP110, CHD5, DENND4B, FEM1B, FLRT2, GPRASP1, HISPPD1, HSPA12A, HSPG2, KIAA0408, KIAA0423, LKAP, LRRTM2, MBNL1, MTSS1, NEDD4, NUP58, PJA2, PREPL, RNMT, RRP8, SEC14L5, SGSM2, SH3PXD2A, SMG1, SRGAP2, TTI1, ZBTB24, ZHX3, ZMYM4, ZNF264, ZSCAN12, ZZEF1
Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.
Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
DNA Res 4(5):307-13. 1997