ABCC7 p.Arg553Asp
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PMID: 9238680
[PubMed]
Scobie G et al: "Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system."
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23
Schematic diagram of external CFTR primers for exons 4, 10 and 11 and the relative positions of the cystic fibrosis mutations 621 + 1 O T , AF508, G542X, R553D and G551X.
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ABCC7 p.Arg553Asp 9238680:23:154
status: NEW