ABCMdb

PMID: 14696845

Gronowitz E, Pitkanen S, Kjellmer I, Heikinheimo M, Strandvik B
Association between serum oncofetal antigens CA 19-9 and CA 125 and clinical status in patients with cystic fibrosis.
Acta Paediatr. 2003 Nov;92(11):1267-71., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCC7 p.Arg553* ABCC7 p.Arg764* ABCC7 p.Glu60* Forty-eight patients were homozygous for DF508 and 25 were heterozygous for DF508 together with another severe mutation or had two other severe mutations (394delTT, 1112delT, 3659delC, 621 1G → T, E60X, R553X, 3126del4, R764X). Login to comment 44 ABCC7 p.Gln1238* ABCC7 p.Glu1401* Severe mutations (1154insTC, E1401X, Q1238X) were found together with one unknown mutation in three pancreatic sufficient patients. Login to comment 45 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg560Thr ABCC7 p.Arg75Gln ABCC7 p.Thr338Ile ABCC7 p.Ser945Leu ABCC7 p.Arg117Cys ABCC7 p.Val603Phe ABCC7 p.Ile506Leu The remaining 23 patients had at least one mild (I506L, R117C, S945L, T338I, W301R, 3849 10KBC → T, 1249-5 → G, R117H, R75Q), moderate (G551D, R560T, V603F) or unknown mutation. Login to comment