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Archives de pédiatrie
Volume 12, n° 6
pages 646-649 (juin 2005)
Doi : 10.1016/j.arcped.2005.04.064
Mucoviscidose : organisation du dépistage néonatal français, premiers résultats enregistrés
Cystic fibrosis: the French neonatal screening organization, preliminary results
 

A. Munck , C. Sahler, M. Briard, M. Vidailhet, J.P. Farriaux
AFDPHE, 38, rue Cauchy, 75015 Paris, France 

*Auteur correspondant.

Mots clés : Dépistage néonatal, Trypsine immunoréactive, Iléus méconial, Mutations

Keywords : Neonatal screening, Immunoreactive trypsin, Meconium ileus, CFTR analysis


1  Kit CF20 : ΔF 508, ΔI 507, 1078 del T, 1717-1G>A, 2183AA>G, 3659 delC, 3849+10 kbC>T, 621+1G>T, A455E, E60X, G 542X, G551D, N1303 K, R1162X, R117H, R334W, R347P, R553X, S1251 N, W1282X.
2  Kit CF 30 : 1811+1,6 kbA>G, 2789+5G>A, 3120+1G>A, 3272 - 26 A>G, 394 del TT, 711+1G>T, G 85 E, Y 1092 X, Y 122 X, W846X.


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