PMID: 11270251

Barthellemy S, Maurin N, Roussey M, Ferec C, Murolo S, Berthezene P, Iovanna JL, Dagorn JC, Sarles J
[Evaluation of 47,213 infants in neonatal screening for cystic fibrosis, using pancreatitis-associated protein and immunoreactive trypsinogen assays].
Arch Pediatr. 2001 Mar;8(3):275-81., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11270251:86:92
status: NEW
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 Leurs g&#e9;notypes &#e9;taient les suivants : ࢞F508/࢞F508 (n = 1), ࢞F508/N1303K (n = 2), ࢞F508/1717 G࢐A (n = 1), ࢞I507/࢞I507 (n = 1). Login to comment 101 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11270251:101:10
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11270251:101:25
status: NEW
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 (n = 12), R117H (n = 3), N1303K (n = 1). Login to comment 102 ABCC7 p.Ala299Thr
X
ABCC7 p.Ala299Thr 11270251:102:44
status: NEW
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 Une anomalie non d&#e9;crite &#e0; ce jour (A299T) et dont le r&#f4;le pathologique est incertain a &#e9;galement &#e9;t&#e9; d&#e9;couverte chez un enfant. Login to comment 168 ABCC7 p.Ala299Thr
X
ABCC7 p.Ala299Thr 11270251:168:91
status: NEW
view ABCC7 p.Ala299Thr details
 Par ailleurs, 16 enfants h&#e9;t&#e9;rozygotes, dont l`un porteur d`une mutation nouvelle (A299T), ont &#e9;t&#e9; identifi&#e9;s. Login to comment