PMID: 18822253

Munck A, Roussey M
[The French nationwide cystic fibrosis newborn screening program: strategy and results].
Arch Pediatr. 2008 Jun;15 Suppl 1:S1-6. doi: 10.1016/S0929-693X(08)73940-X., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18822253:50:465
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18822253:50:491
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 18822253:50:515
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 18822253:50:507
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18822253:50:473
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18822253:50:457
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 18822253:50:482
status: NEW
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ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 18822253:50:523
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 18822253:50:614
status: NEW
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ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 18822253:50:630
status: NEW
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ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 18822253:50:621
status: NEW
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ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 18822253:50:450
status: NEW
view ABCC7 p.Glu60* details
 L`organigramme du DNN (fig. 1) pr&#e9;voit une valeur seuil de TIR &#e0; J3 d&#e9;termin&#e9;e sur les donn&#e9;es des r&#e9;gions fran&#e7;aises ayant d&#e9;but&#e9; ce d&#e9;pistage il y a plus de 10 ans afin de s&#e9;lec-  Mutations recherch&#e9;es par le Kit Elucigen dans le cadre du d&#e9;pistage n&#e9;onatal de la mucoviscidose (Kit CF30) : F508del ; I 507del ; 1078delT, 1717-1 G>A ; 2183AA>G ; 3659delC ; 3849+10kbC>T ; 621+1G>T ; A455E ; E60X ; G542X ; G551D ; N1303K ; R1162X ; R117H ; R334W ; R347P ; R553X ; S1251N ;W1282X ; 1811+1.6kbA>G ; 2789+5G>A ; 3120+1G>A ; 3272-26A>G ; 394delT ; 711+1G>T ; G85E ; Y1092X ; Y122X ;W846X. Login to comment 148 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18822253:148:77
status: NEW
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 Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Login to comment 150 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18822253:150:128
status: NEW
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 O`Sullivan BP, Zwerdling RG, Dorkin HL, et al. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/ R117H-7T genotype. Login to comment