PMID: 12923859

Simon-Bouy B, Satre V, Ferec C, Malinge MC, Girodon E, Denamur E, Leporrier N, Lewin P, Forestier F, Muller F
Hyperechogenic fetal bowel: a large French collaborative study of 682 cases.
Am J Med Genet A. 2003 Sep 1;121A(3):209-13., 2003-09-01 [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCC7 p.Arg668Cys
X
ABCC7 p.Arg668Cys 12923859:55:105
status: NEW
view ABCC7 p.Arg668Cys details
ABCC7 p.Arg668Cys
X
ABCC7 p.Arg668Cys 12923859:55:106
status: NEW
view ABCC7 p.Arg668Cys details
ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 12923859:55:99
status: NEW
view ABCC7 p.Gly576Ala details
ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 12923859:55:58
status: NEW
view ABCC7 p.Trp846* details
 In addition, one fetus presented with two CFTR mutations (W846X associated with the complex allele G576A-R668C) involved in congenital bilateral agenesis of the vas deferens. Login to comment