Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Combined lipase deficiency is an autosomal recessive disorder characterized by massively elevated Triglycerides which is caused by mutations of the LMF1 gene.
Hypertriglyceridemia
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APOA5
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APOE
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Combined lipase deficiency
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LMF1
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GPIHBP1
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LIPC
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LIPE
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LPL
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Plasma triglyceride level quantitative trait locus
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Transient infantile hypertriglyceridemia
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| 1. |
Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion. 
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| 2. |
Paterniti JR et al. (1983) Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse.
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| 3. |
Péterfy M et al. (2007) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
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| 4. |
Cefalù AB et al. (2009) Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
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| 5. |
Breckenridge WC et al. (1982) Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.
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| 6. |
OMIM.ORG article Omim 246650
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