PMID: 22052729

Dugueperoux I, Scotet V, Audrezet MP, Saliou AH, Collet M, Blayau M, Schmitt S, Kitzis A, Fresquet F, Muller F, Ferec C
Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Prenat Diagn. 2012 Jan;32(1):21-8. doi: 10.1002/pd.2866. Epub 2011 Nov 2., [PubMed]
Sentences
No. Mutations Sentence Comment
107 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 22052729:107:92
status: NEW
view ABCC7 p.Gly542* details
 The gene analysis indicated that the couple carried the F508del (c.1521_1523delCTT) and the G542X (c.1624 G > T) mutations and that the fetus was CF-affected. Login to comment