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 :
2-month-old female compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg)
| Title : Early-Onset Wolman Disease in an Infant with Novel Compound Heterozygous LIPA Variants - Zhu_2026_Clin.Lab_72_2007 |
| Author(s) : Zhu T , Pu Y , Wei D , Wang T |
| Ref : Clin Lab , 72 :2007 , 2026 |
| Abstract : |
| PubMedSearch : Zhu_2026_Clin.Lab_72_2007 |
| PubMedID: 42733995 |
| Gene_locus related to this paper: human-LIPA |