Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype

Miguel Chillón, Teresa Casals, Virginia Nunes, Javier Giménez, Estela Pérez Rulz, Xavier P. Estivill

Research output: Contribution to journalArticle

14 Citations (Scopus)
Original languageEnglish
Pages (from-to)1741-1742
Number of pages2
JournalHuman Molecular Genetics
Volume2
Issue number10
DOIs
Publication statusPublished - Oct 1993
Externally publishedYes

Fingerprint

DNA Mutational Analysis
Molecular Sequence Data
Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Membrane Protein
Chloride Channels
Vas Deferens
Preschool Children
Missense Mutation
Point Mutation
Cystic Fibrosis
Phenotype
Membrane Proteins
Mutation
Genes
Gene
Human
Children
Cystic fibrosis

ASJC Scopus subject areas

  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)
  • Genetics

Cite this

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. / Chillón, Miguel; Casals, Teresa; Nunes, Virginia; Giménez, Javier; Rulz, Estela Pérez; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 2, No. 10, 10.1993, p. 1741-1742.

Research output: Contribution to journalArticle

Chillón, Miguel ; Casals, Teresa ; Nunes, Virginia ; Giménez, Javier ; Rulz, Estela Pérez ; Estivill, Xavier P. / Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 10. pp. 1741-1742.
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