Lipase-Reifungsfaktor 1

Davis RC et al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.

Paterniti JR et al. (1983) Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse.

Péterfy M et al. (2007) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.

Cefalù AB et al. (2009) Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

Blanchette-Mackie EJ et al. (1986) Effect of the combined lipase deficiency mutation (cld/cld) on ultrastructure of tissues in mice. Diaphragm, heart, brown adipose tissue, lung, and liver.

Okamoto Y et al. (1995) Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report.

Briquet-Laugier V et al. (1999) cld and lec23 are disparate mutations that affect maturation of lipoprotein lipase in the endoplasmic reticulum.

NCBI article

OMIM.ORG article

Orphanet article