ABCMdb

PMID: 20719861

Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
Hum Mol Genet. 2010 Nov 15;19(22):4313-8. Epub 2010 Aug 18., 2010-11-15 [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCG5 p.Arg446* ABCG5 p.Gln16* One gene, ABCG5, had two nonsense mutations (Q16X and R446X). Login to comment 65 ABCG5 p.Arg446* ABCG5 p.Gln16* A single gene, ABCG5, contained two different nonsense mutations: Q16X and R446X (Fig. 2B). Login to comment 66 ABCG5 p.Arg446* ABCG5 p.Gln16* Sanger sequencing confirmed both mutations in the proband and that her mother and father were heterozygotes for the Q16X and R446X mutations, respectively (data not shown). Login to comment 68 ABCG5 p.Arg446* ABCG5 p.Gln16* The ABCG5-R446X mutation was observed in a 10-year-old girl with sitosterolemia (21), whereas the Q16X mutation has not been reported previously. Login to comment