ABCMdb

PMID: 15334505

Picard E, Aviram M, Yahav Y, Rivlin J, Blau H, Bentur L, Avital A, Villa Y, Schwartz S, Kerem B, Kerem E
Familial concordance of phenotype and microbial variation among siblings with CF.
Pediatr Pulmonol. 2004 Oct;38(4):292-7., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Gly85Glu There are mutations associated mainly with pancreatic insufficiency (PI), while others are associated mainly with pancreatic sufficiency (PS).3 However, some mutations such as G85E or 3849þ10 kb C ! Login to comment 66 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The following genotypes were found among the families: DF508/DF508 (7), W1282X/W1282X (4), N1303K/N1303K (3), DF508/ W1282X (3), W1282X/N1303K (2), DF508/G542X (2), DF508/3849þ10 kb C ! Login to comment 68 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys A (1), DF508/N1303K (1), W1282X/3849þ10 kb C ! Login to comment 69 ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu T (1), G542X/G542X (1), G85E/G85E (1), 3849þ10 kb C ! Login to comment 71 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Gln359Lys ABCC7 p.Gln359Lys A (1), S549R/S549R (1), Q359K/Q360K (1), DF508/Unknown (4), W1282X/Unknown (3), G542X/Unknown (2), G85E/Unknown (1), and Q359K/ Unknown (1). Login to comment 76 ABCC7 p.Trp1282* Likewise, among the 8 patients homozygous for the W1282X mutation, 4 presented with gastrointestinal manifestations at diagnosis, while 4 did not. Login to comment