PMID: 24129438

Masvidal L, Igreja S, Ramos MD, Alvarez A, de Gracia J, Ramalho A, Amaral MD, Larriba S, Casals T
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
Eur J Hum Genet. 2014 Jun;22(6):784-91. doi: 10.1038/ejhg.2013.238. Epub 2013 Oct 16., [PubMed]
Sentences
No. Mutations Sentence Comment
23 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 24129438:23:338
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Ala399Asp
X
ABCC7 p.Ala399Asp 24129438:23:270
status: NEW
view ABCC7 p.Ala399Asp details
 Samples were grouped considering four genotypes: (a) CF patients homozygous for p.Phe508del (CF-F508del), n &#bc; 7; (b) compound heterozygous CF patients carrying one of the two different splicing mutations: the c.580-1G4T, n &#bc; 4 [p.Phe508del (2), p.Gly542* (1), p.Ala399Asp (1)]; and c.2657&#fe; 5G4A, n &#bc; 9 [p.Phe508del (6), p.Asn1303Lys (1), c.273 &#fe; 1G4A (1) and p.Gly542* (1)]; (c) CF carrier relatives of these CF patients (c.[580-1G4T];[&#bc; ], n &#bc; 3; c.[2657 &#fe; 5G4A];[&#bc; ], n &#bc; 9); and (d) wild-type (wt) control group, n &#bc; 21. Login to comment