PMID: 19111681

Togo M, Hashimoto Y, Iso-O N, Kurano M, Hara M, Kadowaki T, Koike K, Tsukamoto K
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.
Clin Chim Acta. 2009 Mar;401(1-2):165-9. Epub 2008 Nov 5., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCG5 p.Arg446*
X
ABCG5 p.Arg446* 19111681:6:232
status: NEW
view ABCG5 p.Arg446* details
 The second patient was a compound heterozygote; one of the mutations was the same as that found in the first patient, while the other mutation was a C to T substitution in exon 10, resulting in a premature termination at codon 446 (R446X). Login to comment