Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

T. Casals, M. D. Ramos, J. Gimenez, M. Nadal, V. Nunes, Xavier P. Estivill

Research output: Contribution to journalArticle

6 Citations (Scopus)
Original languageEnglish
JournalHuman Mutation
Volume11
Issue number1
Publication statusPublished - 1998
Externally publishedYes

Fingerprint

DNA Mutational Analysis
Cystic Fibrosis Transmembrane Conductance Regulator
Family Health
Amino Acid Substitution
Pedigree
Heterozygote
Point Mutation
Cystic Fibrosis
Microsatellite Repeats
Exons
Mutation
DNA

Keywords

  • CFTR
  • Cystic fibrosis
  • Paternal origin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Casals, T., Ramos, M. D., Gimenez, J., Nadal, M., Nunes, V., & Estivill, X. P. (1998). Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Human Mutation, 11(1).

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. / Casals, T.; Ramos, M. D.; Gimenez, J.; Nadal, M.; Nunes, V.; Estivill, Xavier P.

In: Human Mutation, Vol. 11, No. 1, 1998.

Research output: Contribution to journalArticle

Casals, T, Ramos, MD, Gimenez, J, Nadal, M, Nunes, V & Estivill, XP 1998, 'Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis', Human Mutation, vol. 11, no. 1.
Casals, T. ; Ramos, M. D. ; Gimenez, J. ; Nadal, M. ; Nunes, V. ; Estivill, Xavier P. / Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. In: Human Mutation. 1998 ; Vol. 11, No. 1.
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