PMID: 7562966

Balnaves ME, Bonacquisto L, Francis I, Glazner J, Forrest S
The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.
J Med Genet. 1995 Jul;32(7):537-42., [PubMed]
Sentences
No. Mutations Sentence Comment
121 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7562966:121:111
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7562966:121:122
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7562966:121:104
status: NEW
view ABCC7 p.Gly542* details
 Three hundred and fifty six people (to 30.9.93) have been tested for AF508 and three exon 11 mutations: G542X, G551D, and R553X. Login to comment