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PMID: 15343184
Borowitz D, Baker SS, Duffy L, Baker RD, Fitzpatrick L, Gyamfi J, Jarembek K
Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis.
J Pediatr. 2004 Sep;145(3):322-6.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
116
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15343184:116:442
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 15343184:116:454
status:
NEW
view ABCC7 p.Pro574His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15343184:116:569
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Gly551Ser
X
ABCC7 p.Gly551Ser 15343184:116:436
status:
NEW
view ABCC7 p.Gly551Ser details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15343184:116:460
status:
NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15343184:116:548
status:
NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 15343184:116:448
status:
NEW
view ABCC7 p.Arg347His details
ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 15343184:116:466
status:
NEW
view ABCC7 p.Arg352Gln details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15343184:116:523
status:
NEW
view ABCC7 p.Gly85Glu details
FE-1 values in subjects with CFTR mutations associated with pancreatic sufficiency11 N Mean (mg/g stool) Median (mg/g stool) Range (mg/g stool) Subjects with at least one PS allele* FE-1 >200 mg/g stool 16 584 582.9 349-773 FE-1 <200 mg/g stool 5 64.4 74.8 0-125 Subjects with at least one PS variable alleley FE-1>200 mg/g stool 29 496.2 493.6 224-798 FE-1 <200 mg/g stool 13 76.1 65.9 0-187 *Pancreatic sufficient dominant CF alleles
G551S
R117H
R347H
P574H
R334W
R352Q
T3381 yVariable pancreatic sufficient CF mutations
G85E
3849 + 10 kb C fi T
R347P
2789 + 5G fi A
A455E
In summary, FE-1 is an accurate, easily obtained screening test to classify patients with CF as PI or PS.
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