Jill - Action FCS is the UK charity for people affected by Familial Chylomicronaemia Syndrome (FCS)

Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

By Jill | 13 September 1998

The Journal of Pediatrics

Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

By Jill | 5 August 1991

Journal of Biological Chemistry

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Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

Posts by Jill

Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

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