Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New per...
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
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United States: John Wiley & Sons, Inc
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English
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United States: John Wiley & Sons, Inc
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Contents
Lysosomal acid lipase deficiency (LAL‐D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in LIPAse A, lysosomal acid type (LIPA) gene. The rs1051338 single‐nucleotide polymorphism (SNP) in LIPA gene, in vitro, could adversely affect the LAL activity (LAL‐A). Nona...
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Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
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TN_cdi_doaj_primary_oai_doaj_org_article_8dbd368162384f4ebf5e792b799f1d1a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8dbd368162384f4ebf5e792b799f1d1a
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ISSN
2052-1707
E-ISSN
2052-1707
DOI
10.1002/prp2.820
