ABCMdb

PMID: 1384327

Scriver CR, Fujiwara TM
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.
Am J Hum Genet. 1992 Nov;51(5):943-50., [PubMed]

Sentences

No. Mutations Sentence Comment

76 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly91Arg ABCC7 p.Trp846* of CF chromosomes]) Distribution and Mutation (%) Askhenazi from Israel (Abeliovich et al. 1992 [94]; Shoshani et al. 1992 [95]): W1282X .......................................... AFS08 ............................................. G542X ............................................ 3849 + 10 kb, CT ............................ N1303K ........................................... Total ............................................ Celtic Bretons from France (Ferec et al. 1992 [365]): AF508 ............................................. 1078delT ......................................... G5S1D ............................................ 1717-1 G-A ..................................... W846X ............................................ G91R .............................................. Login to comment 78 ABCC7 p.Ala455Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* Ten alleles at 0.27% each .................... Total ............................................ French Canadians from northeastern Quebec (Rozen et al. 1992 [181]): 48 30 12 4 3 97 60 22 4 0 4 92a 82 4 1 1 1 2 3 98a AFS08 ......... ..................... 58 621+1G-T .............................. 23 A455E .......... .................... 8 G85E ......... ..................... 1 711+1 G-T ............................... 1 G542X .......... .................... 1 Y1092X .............................. 1 N1303K ........... ................... 1 Total .......... .................... 93a a Because of rounding, individual values do not sum to the total. Login to comment