PMID: 1377660

Larsen J, Georghiou A, Kury FD, Gotz M, Sanz K, Dobianer K, Spona J
Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families.
Hum Genet. 1992 Jun;89(4):464-5., [PubMed]
Sentences
No. Mutations Sentence Comment
40 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 1377660:40:171
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 1377660:40:178
status: NEW
view ABCC7 p.Arg553* details
 Acknowledgements.We greatly appreciate the help of L.-C. Tsui (Toronto) in providing DNA samples as positive controls for our AF508 system, K. Harrington (London) for the G551D, R553X and 621+ 1G-T primers, and O. Stur for the whole blood samples of CF patients. Login to comment