PMID: 24433235

Puzik A, Morris-Rosendahl DJ, Ruckauer KD, Otto C, Gessler P, Saueressig U, Hentschel R
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
BMC Pediatr. 2014 Jan 17;14:13. doi: 10.1186/1471-2431-14-13., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCC7 p.Cys524Tyr
X
ABCC7 p.Cys524Tyr 24433235:58:191
status: NEW
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ABCC7 p.Cys524Tyr
X
ABCC7 p.Cys524Tyr 24433235:58:202
status: NEW
view ABCC7 p.Cys524Tyr details
 Mutation analysis showed compound heterozygosity for the common CFTR mutation p.Phe508del (F508del or ƊF508, c.1521_1523 delCTT at the DNA level) and another, as yet unknown mutation, p.Cys524Tyr (C524Y, c.1571G > A at the DNA level), both in exon 11. Login to comment 66 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 24433235:66:88
status: NEW
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 Nevertheless, there have been described associations of mutations like 621 + 1G- > T or G551D with the incidence of MI [6,7]. Login to comment 124 ABCC7 p.Cys524Tyr
X
ABCC7 p.Cys524Tyr 24433235:124:191
status: NEW
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 Hum Mol Genet 1992, 1(1):11-17. doi:10.1186/1471-2431-14-13 Cite this article as: Puzik et al.: Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr). Login to comment