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

Fibrosis
Membrane Protein
Phenotype
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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