ABCMdb

PMID: 18455968

Farra C, Medawar R, Mroueh S, Souaid M, Cabet F, Awwad J
Cystic fibrosis: a new mutation in the Lebanese population.
J Cyst Fibros. 2008 Sep;7(5):429-32. Epub 2008 May 2., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ser549Arg ABCC7 p.Ser549Arg ABCC7 p.Ile1234Val ABCC7 p.Ile1234Val ABCC7 p.His139Leu ABCC7 p.His139Leu Recently, a panel of 11 common mutations accounting overall for 70% of all Arab CF chromosomes have been reported : ΔF508del, 3120+1G"A, N1303K, W1282X, G115X, 711+1G"A, S549R, I1234V, 1548delG , H139L and 4010del4 [9]. Login to comment 63 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys Of all the CF alleles reported in the Lebanese population by Desgeorges et al. [4], four were included in the 11 most common Arab CF alleles: ΔF508del, N1303K, W1282X and 4010del4 accounting for around 60% of the reported Lebanese CF alleles. Login to comment