PMID: 19146842

Schneider M, von Kanel T, Sanz J, Gallati S
Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler using MLPA hybridization probes.
Clin Chim Acta. 2009 Apr;402(1-2):47-53. Epub 2008 Dec 24., [PubMed]
Sentences
No. Mutations Sentence Comment
27 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 19146842:27:92
status: NEW
view ABCC7 p.Arg553* details
 7 patients were compound heterozygous for F508del and the mutations 3905insT (P3-5, P8) and R553X (P6, P7, P9) which induce both premature stop codons (PTC). Login to comment 33 ABCC7 p.Gly126Asp
X
ABCC7 p.Gly126Asp 19146842:33:199
status: NEW
view ABCC7 p.Gly126Asp details
 doi:10.1016/j.cca.2008.12.017 Contents lists available at ScienceDirect Clinica Chimica Acta journal homepage: www.elsevier.com/locate/clinchim missense mutation (P2: F508del/R5347H and P1: F508del/G126D, respectively). Login to comment