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

Molecular Sequence Data
Glutamates
Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Membrane Protein
Polymerase Chain Reaction
Oligodeoxyribonucleotides
Polymerase chain reaction
Missense Mutation
Genotype
Point Mutation
Cystic Fibrosis
Phenotype
Codon
Lysine
Glutamic Acid
Exons
Membrane Proteins
Mutation
Genes

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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