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. Login to comment
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. Login to comment