ABCC7 p.Cys524Tyr
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PMID: 24433235
[PubMed]
Puzik A et al: "Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)."
No.
Sentence
Comment
58
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.
X
ABCC7 p.Cys524Tyr 24433235:58:191
status: NEWX
ABCC7 p.Cys524Tyr 24433235:58:202
status: NEW124 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).
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ABCC7 p.Cys524Tyr 24433235:124:191
status: NEW