ABCG5 p.Gln16*
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PMID: 20719861
[PubMed]
Rios J et al: "Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia."
No.
Sentence
Comment
7
One gene, ABCG5, had two nonsense mutations (Q16X and R446X).
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ABCG5 p.Gln16* 20719861:7:45
status: VERIFIED65 A single gene, ABCG5, contained two different nonsense mutations: Q16X and R446X (Fig. 2B).
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ABCG5 p.Gln16* 20719861:65:66
status: VERIFIED66 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).
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ABCG5 p.Gln16* 20719861:66:116
status: VERIFIED68 The ABCG5-R446X mutation was observed in a 10-year-old girl with sitosterolemia (21), whereas the Q16X mutation has not been reported previously.
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ABCG5 p.Gln16* 20719861:68:98
status: VERIFIED