Key result
Genetic analysis of three patients with severe hypertriglyceridaemia identified novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
Case Report (n=3)
Identifies novel genetic mutations in LPL and APOA5 associated with severe hypertriglyceridaemia, expanding the known genetic basis of the condition.
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May inform genetic evaluation in severe hypertriglyceridaemia; hypothesis-generating and should not change practice without validation.
Hooper et al. (2014) conducted a case report in Severe hypertriglyceridaemia (n=3). Genetic mutations (LPL and APOA5) was evaluated on Identification of genetic mutations. Genetic analysis of three patients with severe hypertriglyceridaemia identified novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
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