Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
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 : p.R424W Arg424Trp (R396W in the publication) in one patient compound heterozygote? with G85V
| Title : A Brazilian galactosialidosis patient given renal transplantation: a case report - Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| Author(s) : Kiss A , Zen PR , Bittencourt V , Paskulin GA , Giugliani R , d'Azzo A , Schwartz IV |
| Ref : J Inherit Metab Dis , 31 Suppl 2 :S205 , 2008 |
| Abstract : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| ESTHER : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| PubMedSearch : Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205 |
| PubMedID: 18937050 |
| Gene_locus related to this paper: human-CTSA |