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.Leu200= c.600G>A exonic cryptic splice site activation and 63 b.p. deletion in exon 6
| Title : The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency - Bychkov_2019_Mol.Genet.Metab_127_212 |
| Author(s) : Bychkov IO , Kamenets EA , Filatova AY , Skoblov MY , Mikhaylova SV , Strokova TV , Gundobina OS , Zakharova EY |
| Ref : Mol Genet Metab , 127 :212 , 2019 |
| Abstract : Bychkov_2019_Mol.Genet.Metab_127_212 |
| ESTHER : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedSearch : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedID: 31230978 |
| Gene_locus related to this paper: human-LIPA |