PMID: 21536020

Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.
Clin Biochem. 2011 Jul;44(10-11):799-803. Epub 2011 Apr 22., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 21536020:95:83
status: NEW
view ABCC7 p.Gly85Glu details
 Up to 46 mutations have been described in exon 3, most of them are rare, excluding G85E that is relatively Fig. 2. Login to comment