Found: 15
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Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 180, doi. 10.1038/ejhg.2011.161
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- Publication type:
- Article
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 36, doi. 10.1038/ejhg.2010.137
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- Publication type:
- Article
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1683, doi. 10.1038/ejhg.2009.73
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- Publication type:
- Article
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136
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- Publication type:
- Article
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 85, doi. 10.1038/sj.ejhg.5201498
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- Publication type:
- Article
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
- Published in:
- 2005
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- Publication type:
- Letter
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201306
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- Publication type:
- Article
CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 5, p. 463, doi. 10.1111/j.1469-1809.2010.00591.x
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- Publication type:
- Article
Andrology. Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.
- Published in:
- Human Reproduction, 1999, v. 14, n. 12, p. 3035, doi. 10.1093/humrep/14.12.3035
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- Publication type:
- Article
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276
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- Publication type:
- Article
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 774, doi. 10.1002/humu.22291
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- Publication type:
- Article
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1557, doi. 10.1002/humu.22129
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- Publication type:
- Article
UMD- CFTR: A database dedicated to CF and CFTR-related disorders.
- Published in:
- 2010
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- Publication type:
- Other
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011
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- Publication type:
- Article
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-19
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- Publication type:
- Article