PMID: 17448246

Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
BMC Med Genet. 2007 Apr 20;8:22., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC7 p.Arg170His
X
ABCC7 p.Arg170His 17448246:54:177
status: NEW
view ABCC7 p.Arg170His details
 Rearrangement c.3964- 3890_c.4443+3143del9454ins5 [CFTRdele22_24] (Figure 1B) was found in a 41-year-old man with Spanish and Sicily background carrying the missense mutation p.Arg170His. Login to comment