| Title : Intragenic deletion as a novel type of mutation in Wolman disease - Lee_2011_Mol.Genet.Metab_104_703 |
| Author(s) : Lee TM , Welsh M , Benhamed S , Chung WK |
| Ref : Mol Genet Metab , 104 :703 , 2011 |
|
Abstract :
Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular cholesteryl esters and triglycerides. We describe a case of lysosomal acid lipase deficiency in an infant with WD and report on a novel mutation type, intragenic deletion. |
| PubMedSearch : Lee_2011_Mol.Genet.Metab_104_703 |
| PubMedID: 21963785 |
Lee TM, Welsh M, Benhamed S, Chung WK (2011)
Intragenic deletion as a novel type of mutation in Wolman disease
Mol Genet Metab
104 :703
Lee TM, Welsh M, Benhamed S, Chung WK (2011)
Mol Genet Metab
104 :703