ABCC7 p.Leu346Glu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 7513296
[PubMed]
Boteva K et al: "Novel cystic fibrosis mutation associated with mild disease in Cypriot patients."
No.
Sentence
Comment
86
These milder phenotypes are more easily explained by the possible mildness of the second mutation, L346E This is in exon 7, which is part of the membrane-spanning region, and next to another previously reported mutation, R347P, which is also known to be associated with less severely impaired pancreatic function (Dean et al. 1990).
X
ABCC7 p.Leu346Glu 7513296:86:99
status: NEW