View source for JASReference:Togo M:Hashimoto Y:Iso-O N:Kurano M:Hara M:Kadowaki T:Koike K:Tsukamoto K:,Clin Chim Acta,2008,401,165

{{JASReference|mutation=
&&ABCG5/Dup/830/19&&F284SfsX5&&exon7
&&ABCG5/Mut/1336/C-T&&R446X&&exon10
|title=Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases
|doi=10.1016/j.cca.2008.10.026
|pmid=19111681
|comment=Duplication starts from the 2nd base of Pro277 (CCA). There is a typo in Figure 1 of the article, where the triplet for Pro is written as GCA. The sequencer output of the Figure 1 is correct (CCA). (by Masanori Arita)
}}