| 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 : |
| PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614 |
| PubMedID: 22796000 |
| Gene_locus related to this paper: human-PREPL |