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PMID: 10793926
Vodoff MV, Gilbert B, Piguet C, Sautereau D, de Lumley L
[Acute recurrent pancreatitis and heterozygous mutation of the cystic fibrosis gene: a case report].
Arch Pediatr. 2000 Apr;7(4):388-90.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
33
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10793926:33:63
status:
NEW
view ABCC7 p.Gly542* details
La recherche des principales autres mutations (d1.507, Wl282X,
G542X
, 1717-lG-A.
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34
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10793926:34:7
status:
NEW
view ABCC7 p.Arg553* details
G55lD,
R553X
, Nl303K) et le screening par DGGE (taux de couverture de 90 %) sont nCgatifs.
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