ABCMdb

PMID: 12578886

Mymin D, Wang J, Frohlich J, Hegele RA
Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.
Circulation. 2003 Feb 11;107(5):791., 2003-02-11 [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCG8 p.Ser107* However, a novel CϾG mutation was found at the second residue of codon nucleotide 107 in exon 3 of the ABCG8 gene, which predicted premature truncation of the protein product (S107X) (Figure 2). Login to comment 17 ABCG8 p.Ser107* However, a novel CϾG mutation was found at the second residue of codon nucleotide 107 in exon 3 of the ABCG8 gene, which predicted premature truncation of the protein product (S107X) (Figure 2). Login to comment 18 ABCG8 p.Ser107* Serum cholesterol was 10.8, 11.8, and 9.2 mmol/L (416, 455, and 356 mg/dL), respectively, and serum sitosterol concentrations were 282, 447, and 184 mg/L, respectively (reference range 0 to 10 mg/L) in these relatives, who were also shown to be homozygotes for S107X. Login to comment 20 ABCG8 p.Ser107* Serum cholesterol was 10.8, 11.8, and 9.2 mmol/L (416, 455, and 356 mg/dL), respectively, and serum sitosterol concentrations were 282, 447, and 184 mg/L, respectively (reference range 0 to 10 mg/L) in these relatives, who were also shown to be homozygotes for S107X. Login to comment