Paper Report for: Lee_2011_Mol.Genet.Metab_104_703
Reference
Title: Intragenic deletion as a novel type of mutation in Wolman disease Lee TM, Welsh M, Benhamed S, Chung WK Ref: Mol Genet Metab, 104:703, 2011 : PubMed
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.
        
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Lee TM, Welsh M, Benhamed S, Chung WK (2011) Intragenic deletion as a novel type of mutation in Wolman disease Mol Genet Metab104: 703-5
Lee TM, Welsh M, Benhamed S, Chung WK (2011) Mol Genet Metab104: 703-5