PMID: 11899242

Efferth T
The human ATP-binding cassette transporter genes: from the bench to the bedside.
Curr Mol Med. 2001 Mar;1(1):45-65., [PubMed]
Sentences
No. Mutations Sentence Comment
165 ABCB9 p.Arg659Gln
X
ABCB9 p.Arg659Gln 11899242:165:129
status: NEW
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 The down-regulation of TAP1 by an unknown mechanism in renal cell carcinomas [125] and a mutation close to the ATP-binding site (R659Q) in a small lung cancer cell line have been reported [126]. Login to comment 254 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11899242:254:31
status: NEW
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 Other common mutations such as G551D cause abnormal channel activity. Login to comment 255 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11899242:255:0
status: NEW
view ABCC7 p.Gly551Asp details
 G551D, but not delF508 cause defective ATP-binding [211]. Login to comment