PMID: 23416327

Montagnani M, Cazzato S, Mutignani M, Cevenini M, Guidetti E, Zvi IB, Aldini R, Saraceni G, Cavoli C, Garagnani P, Ferrari S, Mantovani V
A patient with pancreas divisum, recurrent acute pancreatitis, and homozygosity for the cystic fibrosis transmembrane regulator-associated protein 5T allele.
Clin Gastroenterol Hepatol. 2013 May;11(5):579-81. doi: 10.1016/j.cgh.2013.02.012. Epub 2013 Feb 13., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCC7 p.Arg31Cys
X
ABCC7 p.Arg31Cys 23416327:37:179
status: NEW
view ABCC7 p.Arg31Cys details
 Previously, Dray et al10 described 2 young female patients who carried the IVS8 5T-12TG variant of the CFTR gene in compound heterozygosity with different mutations (in 1 patient R31C, in the other patient F508del). Login to comment