PMID: 19443567

Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, Castaldo G
Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis.
Clin Chem. 2009 Jul;55(7):1372-9. Epub 2009 May 14., [PubMed]
Sentences
No. Mutations Sentence Comment
75 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19443567:75:123
status: NEW
view ABCC7 p.Asn1303Lys details
 Finally, the 17-repeat allele was identified in 3 chromosomes bearing the F508del mutation and in 1 chromosome bearing the N1303K mutation. Login to comment 105 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19443567:105:285
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19443567:105:354
status: NEW
view ABCC7 p.Gly542* details
 The 98 chromosomes from non-CF individuals were associated with 59 differ- enthaplotypes.Similarly,mostfrequentCFTRmutations are associated with more haplotypes (26 different haplotypes for the 90 chromosomes bearing the F508del mutation, 13 alleles for the 20 chromosomes bearing the N1303K mutation, and 7 haplotypes for the 10 chromosomes bearing the G542X mutation). Login to comment