PMID: 12068373

Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Am J Hum Genet. 2002 Aug;71(2):294-303. Epub 2002 Jun 13., [PubMed]
Sentences
No. Mutations Sentence Comment
237 ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 12068373:237:237
status: NEW
view ABCC7 p.Asp565Gly details
ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 12068373:237:271
status: NEW
view ABCC7 p.Glu822* details
 Hum Mol Genet 6:85-90 Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E (2001) Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621ϩ3ArG, 2751ϩ2TrA, 296ϩ1GrC, 1717-9TrC- D565G) and one nonsense mutation (E822X) in the CFTR gene. Login to comment 238 ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 12068373:238:249
status: NEW
view ABCC7 p.Asp565Gly details
ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 12068373:238:283
status: NEW
view ABCC7 p.Glu822* details
 Hum Mol Genet 6:85-90 Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E (2001) Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621af9;3ArG, 2751af9;2TrA, 296af9;1GrC, 1717afa;9TrCafa; D565G) and one nonsense mutation (E822X) in the CFTR gene. Login to comment