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PMID: 17557942
Quinton PM
Cystic fibrosis: lessons from the sweat gland.
Physiology (Bethesda). 2007 Jun;22:212-25.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
292
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17557942:292:258
status:
NEW
view ABCC7 p.Arg117His details
Neither the basis nor the role of these phenomenon are understood, but when glutamate or precursors and ATP were applied to CF ducts from patients of different genotypes, those ducts from patients with a "mild" phenotype (pancreatic sufficient: ⌬F508/
R117H
) exhibited a significantly larger (almost normal) HCO3 - conductance, whereas ducts from patients with a "severe" phenotype (pancreatic insufficient: ⌬F508/⌬F508) remained impermeable to HCO3 - (132).
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