ABCC7 p.Tyr914*

CF databases: c.2741A>G , p.Tyr914Cys (CFTR1) ? , This mutation was present in father of a CF child.

[switch to compact view]
Comments [show]
Publications
[hide] Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Genet Med. 2006 Sep;8(9):557-62., [PMID:16980811]

Abstract [show]
Comments [show]
Sentences [show]