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Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
Ref : Genet Med , 20 :109 , 2018 |
Abstract : Regal_2018_Genet.Med_20_109 |
ESTHER : Regal_2018_Genet.Med_20_109 |
PubMedSearch : Regal_2018_Genet.Med_20_109 |
PubMedID: 28726805 |
Gene_locus related to this paper: human-PREPL |
Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614 |
Author(s) : Regal L , Aydin HI , Dieltjens AM , Van Esch H , Francois I , Okur I , Zeybek C , Meulemans S , Van Mol C , Van Bruwaene L , Then SH , Jaeken J , Creemers J |
Ref : Mol Genet Metab , 107 :614 , 2012 |
Abstract : Regal_2012_Mol.Genet.Metab_107_614 |
ESTHER : Regal_2012_Mol.Genet.Metab_107_614 |
PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614 |
PubMedID: 22796000 |
Gene_locus related to this paper: human-PREPL |
Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
Author(s) : 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 |
Ref : Eur J Hum Genet , 15 :1029 , 2007 |
Abstract : Martens_2007_Eur.J.Hum.Genet_15_1029 |
ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029 |
PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
PubMedID: 17579669 |
Gene_locus related to this paper: human-PREPL |
Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38 |
Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G |
Ref : American Journal of Human Genetics , 78 :38 , 2006 |
Abstract : Jaeken_2006_Am.J.Hum.Genet_78_38 |
ESTHER : Jaeken_2006_Am.J.Hum.Genet_78_38 |
PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38 |
PubMedID: 16385448 |
Gene_locus related to this paper: human-PREPL |