A Novel Lysosomal Acid Lipase Gene Mutation in a Patient With Cholesteryl Ester Storage Disease
A Novel Lysosomal Acid Lipase Gene Mutation in a Patient With Cholesteryl Ester Storage Disease
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
The molecular defects in the gene encoding the lysosomal acid lipase (LAL) were investigated in an adult male patient affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL deficient activity. Nucleotide sequencing of amplified LAL genomic DNA or reverse‐transcribed mRNA demonstrated that this pa...
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Full title
A Novel Lysosomal Acid Lipase Gene Mutation in a Patient With Cholesteryl Ester Storage Disease
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TN_cdi_proquest_miscellaneous_79807810
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_79807810
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.1998.11.4.335
