A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

V. Nunes, M. Chillón, T. Dörk, B. Tümmler, T. Casals, Xavier P. Estivill

Research output: Contribution to journalComment/debate

22 Citations (Scopus)
Original languageEnglish
Pages (from-to)79-80
Number of pages2
JournalHuman Molecular Genetics
Volume2
Issue number1
DOIs
Publication statusPublished - Jan 1993
Externally publishedYes

Fingerprint

Fibrosis
Membrane Protein
Polymerase Chain Reaction
Polymerase chain reaction
Genotype
Phenotype
Mutation
Genes
Gene
Human
Children
Oligodeoxyribonucleotides
Cystic fibrosis
Case report

ASJC Scopus subject areas

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

Cite this

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. / Nunes, V.; Chillón, M.; Dörk, T.; Tümmler, B.; Casals, T.; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 2, No. 1, 01.1993, p. 79-80.

Research output: Contribution to journalComment/debate

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AU - Casals, T.

AU - Estivill, Xavier P.

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