Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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.G343VfsX14 Gly343ValfsTer14. Proband was a heterozygous carrier of a G-deletion in exon 10 which affects one of five Gs at cDNA positions 1064-1068 result in premature termination of protein translation at residues 336 (G322VfsX14 Gly322ValfsTer14 in mature protein)(Ex10_1del_336X)
| Title : Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease - Lohse_2000_J.Lipid.Res_41_23 |
| Author(s) : Lohse P , Maas S , Elleder M , Kirk JM , Besley GT , Seidel D |
| Ref : J Lipid Res , 41 :23 , 2000 |
| Abstract : Lohse_2000_J.Lipid.Res_41_23 |
| ESTHER : Lohse_2000_J.Lipid.Res_41_23 |
| PubMedSearch : Lohse_2000_J.Lipid.Res_41_23 |
| PubMedID: 10627498 |
| Gene_locus related to this paper: human-LIPA |