ABCMdb

PMID: 7684637

Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW
Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.
Hum Mol Genet. 1993 Feb;2(2):159-63., [PubMed]

Sentences

No. Mutations Sentence Comment

82 ABCC7 p.Ser549Asn All of the mutations except S549N were present in the population tested in this study, and all mutations were efficiently detected by uie assay. Login to comment 108 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr observed AF5O8 G542X G551D W1282X R553X R560T 1717-1 N1303K 621 + 1 R117H S549N 1507 280 7 16 2 4 2 2 5 6 11 1 •Includes affected individuals and known carriers. Login to comment