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Fig. 2 | Lipids in Health and Disease

Fig. 2

From: Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

Fig. 2

Partial nucleotide sequences of the lipoprotein lipase (LPL) gene and pedigree of the family. a The proband was heterozygous for the nucleotide substitution in exon 1 that resulted in W14X. The arrow shows the nucleotide substitution from G to A. b The proband was heterozygous for the nucleotide substitution in exon 6 that resulted in L279 V. The arrow shows the nucleotide substitution from C to G. c W14X was not detected in the son of the proband. d The son of the proband was heterozygous for the nucleotide substitution in exon 6, which resulted in L279 V. The arrow shows the nucleotide substitution from C to G. e W14X was not detected in the wife of the proband. f L279 V was not detected in the wife of the proband. g L279 V was predicted to be damaging by polyphen software. h Pedigree of the family. Black boxes represent W14X, and dashed boxes represent L279 V

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Lipids in Health and Disease

ISSN: 1476-511X