PMID: 22798282

Eminoglu TF, Polat E, Gokce S, Ezgu FS, Senel S, Apaydin S
Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation.
Indian J Pediatr. 2012 Jul 15., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCC7 p.Gly1247*
X
ABCC7 p.Gly1247* 22798282:28:134
status: NEW
view ABCC7 p.Gly1247* details
 DNA sequence analysis of the exons and exon-intron boundaries of the CFTR gene revealed a homozygous nonsense mutation, c.3871 G>T (p.G1247X), in exon 23 (Fig. 2). Login to comment 51 ABCC7 p.Gly1247*
X
ABCC7 p.Gly1247* 22798282:51:236
status: NEW
view ABCC7 p.Gly1247* details
 Most of the cases [5, 9] had moderate to severe focal fibrosis, variable portal inflammation, and some degree of Fig. 1 Hepatocellular vacuolar degeneration and canalicular cholestasis (HEx400) Fig. 2 The c.3871 G>T change leading to p.G1247X mutation in the patient Indian J Pediatr ductular proliferation in liver biopsy. Login to comment