PMID: 12592165

Navarro J, Grosskopf C, Vidailhet M, Briard ML, Farriaux JP
[National program for neonatal screening for cystic fibrosis: implementation and preliminary results].
J Gynecol Obstet Biol Reprod (Paris). 2003 Feb;32(1 Suppl):1S56-60., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12592165:46:173
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12592165:46:132
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12592165:46:226
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12592165:46:56
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12592165:46:155
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 12592165:46:294
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 12592165:46:243
status: NEW
view ABCC7 p.Glu60* details
 3 Les mutations étudiées sont : 1717-1G > A - G542X - W 1282 X - N 1303 K - DF 508 (M) - 3849 + 10kbC > T - 621+1 G > T - R553X - G 551D, R117H, R1162X - R 334W - A455E - 2183 AA > G - 3659delC-- 1078 delT - D1507 - R347P - S 1251N, E60X, 2789+5G > A - 394del T - G 85 E - 1811+1.6 - Y122X - 711+1G > T - W 846 X - Y 1092 - 3272-26A > G. Login to comment