ABCMdb

PMID: 14739679

Farriaux JP, Vidailhet M, Briard ML, Belot V, Dhondt JL
Neonatal screening for cystic fibrosis: France rises to the challenge.
J Inherit Metab Dis. 2003;26(8):729-44., [PubMed]

Sentences

No. Mutations Sentence Comment

114 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Glu60* In its present version, the kit allows screening for 20 CFTR gene mutations (F508del, G542X, N1303K, 1717-1G>A, G551D, W1282X, R553X, I507del, 1078delT, 2183AA>G, 3849 þ 10kbC>T, R1162X, 621 þ 1G>T, R334W, R347P, 3659delC, R117H, S1251N, E60X, A455E) in one workday; moreover, it does not require any speci'c equipment. Login to comment 115 ABCC7 p.Gly85Glu ABCC7 p.Tyr122* ABCC7 p.Tyr1092* It will soon be upgraded to include a further 10 mutations (2789 þ 5G>A, 394delT, G85E, 1811 þ 1,6kbA>G, Y122X, 711 þ 1G>T, W846X2, Y1092X C>A, 3272 À 26A>G, 3120 þ 1G>A 320pb). Login to comment