Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Hypotonia-Cystinuria Syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : 30842 bp deletion (covers partially SLC3A1 and PREPL genes)
| 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 |