PMID: 12658038

Walkowiak J, Nousia-Arvanitakis S, Agguridaki C, Fotoulaki M, Strzykala K, Balassopoulou A, Witt M, Herzig KH
Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test.
J Pediatr Gastroenterol Nutr. 2003 Apr;36(4):474-8., [PubMed]
Sentences
No. Mutations Sentence Comment
51 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12658038:51:129
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12658038:51:159
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12658038:51:257
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly1069Arg
X
ABCC7 p.Gly1069Arg 12658038:51:282
status: NEW
view ABCC7 p.Gly1069Arg details
ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 12658038:51:193
status: NEW
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ABCC7 p.Leu88*
X
ABCC7 p.Leu88* 12658038:51:236
status: NEW
view ABCC7 p.Leu88* details
 RESULTS Among the patients studied, the following mutations of the CFTR gene were present (n): ⌬F508 (223), 621+G-T (10), N1303K (9), 3849+10kbC-T (6), G542X (5), CFTRdele2,3(21kB) (4), E822X (4), 1717-1G-A (3), E836X (3), G1069-L88X (2), R533X (1), G85E (1), 1677delTA (1), G1069R (1), 1525-1G-A (1), and 2789+5G-A (1). Login to comment 64 ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 12658038:64:295
status: NEW
view ABCC7 p.Glu822* details
 Among PS patients with stable enzyme output, the following genotypes were found: 3849+10kbC-T/3849+10kbC-T (n ‫ס‬ 2), ⌬F508/3849+10kbC-T (n ‫ס‬ 2), ⌬F508/1525-1G-A (n ‫ס‬ 1), ⌬F508/M (n ‫ס‬ 5), E822X/M (n ‫ס‬ 1), 2789+5G-A (n ‫ס‬ 1), and M/M (n ‫ס‬ 12). Login to comment