ABCMdb

PMID: 16258369

Gullo L, Mantovani V, Manca M, Migliori M, Bastagli L, Pezzilli R
Mutations of the CFTR gene in idiopathic pancreatic hyperenzymemia.
Pancreas. 2005 Nov;31(4):350-2., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Arg117His ABCC7 p.Gly85Glu ABCC7 p.Glu60* The 29 Mutations and Tn Polymorphism That Can Be Detected by INNO-LiPA Assays Mutation Exon/Intron (i) E60X, G85E, 394delTT 3 621 + 1 G ., R117H (i) 4, 4 711 + 5 G . Login to comment 52 ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly542* A (i) 5 1078delT, R347P, R334W 7 A455E, Tn (i) 8, 9 DF508, DI507 10 G542X, 1717-1 G . Login to comment 53 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg560Thr ABCC7 p.Gln552* A, G551D, R553X, R560T, Q552X (i) 10, 11 2183AA . Login to comment 55 ABCC7 p.Arg1162* A (i) 14b R1162X, 3659delC 19 3849 + 10kbC . Login to comment 56 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Ser1251Asn T (i) 19 3905insT, W1282X, S1251N 20 N1303K 21 TABLE 2. Login to comment