GPIHBP1 C89F Neomutation and Hydrophobic C-Terminal Domain G175R Mutation in Two Pedigrees with Severe Hyperchylomicronemia
作者： Sybil Charrière , Noël Peretti , Sophie Bernard , Mathilde Di Filippo , Agnès Sassolas
DOI: 10.1210/JC.2011-1444
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摘要: … In our study, C89F mutation is associated with C14F, a poorly documented signal peptide GPIHBP1 SNP. A functional impact of this variant is suggested by the higher prevalence of …
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