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 |
Gene_locus related to this paper: human-PREPL |
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 (2012)
Two novel deletions in hypotonia-cystinuria syndrome
Mol Genet Metab
107 :614
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 (2012)
Mol Genet Metab
107 :614