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.S133X Ser133Ter (c.398delC) homozygosity for one base pair deletion at the nucleotide position 398 in exon 4 (c.398delC) found also as compound heterozygote with S275_298del
| Title : Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease - Ruiz-Andres_2017_JIMD.Rep_37_7 |
| Author(s) : Ruiz-Andres C , Selles E , Arias A , Gort L |
| Ref : JIMD Rep , 37 :7 , 2017 |
| Abstract : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| ESTHER : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedSearch : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedID: 28220406 |
| Gene_locus related to this paper: human-LIPA |
| Title : Infant case of lysosomal acid lipase deficiency: Wolman's disease - Sadhukhan_2014_BMJ.Case.Rep_2014_ |
| Author(s) : Sadhukhan M , Saha A , Vara R , Bhaduri B |
| Ref : BMJ Case Rep , 2014 : , 2014 |
| Abstract : Sadhukhan_2014_BMJ.Case.Rep_2014_ |
| ESTHER : Sadhukhan_2014_BMJ.Case.Rep_2014_ |
| PubMedSearch : Sadhukhan_2014_BMJ.Case.Rep_2014_ |
| PubMedID: 24832708 |