ABCMdb

PMID: 12584532

Solomon MP, Wilson DC, Corey M, Kalnins D, Zielenski J, Tsui LC, Pencharz P, Durie P, Sweezey NB
Glucose intolerance in children with cystic fibrosis.
J Pediatr. 2003 Feb;142(2):128-32., [PubMed]

Sentences

No. Mutations Sentence Comment

104 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys In a single Italian center, genetic analysis of 23 patients with CFRD22 showed ∆F508 was the most frequent CFTR mutation and N1303K the second most frequent. Login to comment 105 ABCC7 p.Asn1303Lys However, a more recent multicenter Italian study23 was unable to confirm any special association of N1303K with CFRD. Login to comment 118 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn ABCC7 p.Ile1027Thr ABCC7 p.Ile1027Thr ABCC7 p.Leu1077Pro ABCC7 p.Leu1077Pro ABCC7 p.His199Arg ABCC7 p.His199Arg of patients with IGT 2 10 2 0 0 1/1 16 No of patients with CFRD without FH 0 4 0 0 0 0 4 *Genotype class based on mutation with ∆F508: Class I, 621+1G→T, G542X, 441delA, R553X, W1282X, 3120+1G→A, 4016insT, 1154insTC, I1027T; Class II, ∆F508; Class III, G551D, G85E, S549N, L1077P, H199R; Class IV, Class V, 3849+10kbC→T, 5T; Unknown, G85E/-, ∆F508/-; Other, G551D/R506T, W1282X/W1282X. Login to comment