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PMID: 11274233
Nakanishi K, Sweeney WE Jr, Macrae Dell K, Cotton CU, Avner ED
Role of CFTR in autosomal recessive polycystic kidney disease.
J Am Soc Nephrol. 2001 Apr;12(4):719-25.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
38
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11274233:38:64
status:
NEW
view ABCC7 p.Ser489* details
The absence of functional CFTR in the animal model for CF (CFTR
S489X
or UNC) used in this study has been demonstrated extensively by Western analysis, ribonuclease protection assay, electrophysiologic analysis, and PCR analysis.
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