PMID: 12415481

Rakheja D, Xu Y, Burns DK, Veltkamp DL, Margraf LR
Cystic fibrosis and Chiari type I malformation: autopsy study of two infants with a rare association.
Pediatr Dev Pathol. 2003 Jan-Feb;6(1):88-93. Epub 2002 Nov 6., [PubMed]
Sentences
No. Mutations Sentence Comment
101 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12415481:101:113
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12415481:101:103
status: NEW
view ABCC7 p.Gly542* details
 In two patients, the second mutations could not be identified, while the remaining two patients showed G542X and W1282X as their second mutation, respectively. Login to comment