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PMID: 21816982
Shimizu T, Sugiura T, Wakayama T, Kijima A, Nakamichi N, Iseki S, Silver DL, Kato Y
PDZK1 regulates breast cancer resistance protein in small intestine.
Drug Metab Dispos. 2011 Nov;39(11):2148-54. Epub 2011 Aug 4.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
214
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 21816982:214:65
status:
NEW
view ABCG2 p.Gln141Lys details
ABCG2 p.Gln126*
X
ABCG2 p.Gln126* 21816982:214:55
status:
NEW
view ABCG2 p.Gln126* details
The genotype combination of two dysfunctional variants
Q126X
and
Q141K
results in increased serum uric acid concentration and increased risk of gout (Matsuo et al., 2009).
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