PMID: 22246505

Saison C, Helias V, Ballif BA, Peyrard T, Puy H, Miyazaki T, Perrot S, Vayssier-Taussat M, Waldner M, Le Pennec PY, Cartron JP, Arnaud L
Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior.
Nat Genet. 2012 Jan 15;44(2):174-7. doi: 10.1038/ng.1070., [PubMed]
Sentences
No. Mutations Sentence Comment
73 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 22246505:73:237
status: NEW
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 To pursue this goal, we first evaluated the plasma levels of urate in Jr(a-) individuals, as genome-wide association studies (GWAS) of large cohorts have recently identified the minor allele at rs2231142 in ABCG2 (encoding the defective Q141K variant18,21) as a risk factor for hyperuricemia and gout22,23 and revealed the capacity of ABCG2 to transport urate24. Login to comment 174 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 22246505:174:123
status: NEW
view ABCG2 p.Gln141Lys details
 Imai, Y. et al. C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Login to comment