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PMID: 11773614
Kunzelmann K, Mall M
Electrolyte transport in the mammalian colon: mechanisms and implications for disease.
Physiol Rev. 2002 Jan;82(1):245-89.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
948
ABCC7 p.Ser108Phe
X
ABCC7 p.Ser108Phe 11773614:948:99
status:
NEW
view ABCC7 p.Ser108Phe details
In rectal biopsies from a CF patient compound heterozygous for the CFTR mutations ⌬F508 and
S108F
, cAMP-dependent stimulation induces an attenuated Cl- secretory response, which is further increased during the plateau phase of the biphasic CCH response.
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949
ABCC7 p.Ser108Phe
X
ABCC7 p.Ser108Phe 11773614:949:52
status:
NEW
view ABCC7 p.Ser108Phe details
This indicates residual CFTR function of the mutant
S108F
in native tissue.
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954
ABCC7 p.Ser108Phe
X
ABCC7 p.Ser108Phe 11773614:954:99
status:
NEW
view ABCC7 p.Ser108Phe details
In rectal biopsies from a CF patient compound heterozygous for the CFTR mutations ⌬F508 and
S108F
, cAMP-dependent stimulation induces an attenuated Cl-secretory response, which is further increased during the plateau phase of the biphasic CCH response.
Login to comment
955
ABCC7 p.Ser108Phe
X
ABCC7 p.Ser108Phe 11773614:955:52
status:
NEW
view ABCC7 p.Ser108Phe details
This indicates residual CFTR function of the mutant
S108F
in native tissue.
Login to comment