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PMID: 16791827
Ollero M, Brouillard F, Edelman A
Cystic fibrosis enters the proteomics scene: new answers to old questions.
Proteomics. 2006 Jul;6(14):4084-99.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
184
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 16791827:184:115
status:
NEW
view ABCC7 p.Tyr122* details
It is worth noting that annexin-1 expression in nasal cells from patients bearing the homozygous nonsense mutation
Y122X
, a genotype that resembles that of cftr2/2 mice, was strongly diminished as compared to healthy subjects, suggesting that annexin-1 expression may be related to CF pathogenesis.
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