PMID: 23891278

Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
J Cyst Fibros. 2014 Jan;13(1):15-23. doi: 10.1016/j.jcf.2013.06.003. Epub 2013 Jul 25., [PubMed]
Sentences
No. Mutations Sentence Comment
154 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 23891278:154:16
status: NEW
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 mutations (i.e. R117H;7T) and low PAP concentrations in some patients with PI mutations (i.e. F508del). Login to comment 172 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 23891278:172:87
status: NEW
view ABCC7 p.Arg347Pro details
 Alternatively, the low PAP in this patient (HD-29) might be explained by expression of R347P mutation which is partially associated with exocrine pancreatic sufficiency and might therefore result in a lower PAP value after birth. Login to comment