ABCC7 p.Arg1070Lys
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PMID: 20667826
[PubMed]
Thibodeau PH et al: "The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis."
No.
Sentence
Comment
343
Decreases in side-chain volume (Ala/Gly/Thr substitution) and the presence of charge (Arg-1070 and R1070K) fail to facilitate ⌬F508 trafficking.
X
ABCC7 p.Arg1070Lys 20667826:343:99
status: NEW