Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

R. Torra, C. Badenas, B. Peral, A. Darnell, E. Serra, V. Gamble, A. E. Turco, P. C. Harris, Xavier P. Estivill

Research output: Contribution to journalArticle

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

Fingerprint

DNA Mutational Analysis
Type II Site Specific Deoxyribonucleases
TRPP Cation Channels
Autosomal Dominant Polycystic Kidney
Family Health
Terminator Codon
Nonsense Codon
Glutamine
Point Mutation
England
Spain
Italy
Recurrence
Mutation
DNA
Proteins

Keywords

  • ADPKD
  • Mutation
  • PKD1
  • Recurrence

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Torra, R., Badenas, C., Peral, B., Darnell, A., Serra, E., Gamble, V., ... Estivill, X. P. (1998). Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. Human Mutation, 11(1).

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. / Torra, R.; Badenas, C.; Peral, B.; Darnell, A.; Serra, E.; Gamble, V.; Turco, A. E.; Harris, P. C.; Estivill, Xavier P.

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

Research output: Contribution to journalArticle

Torra, R, Badenas, C, Peral, B, Darnell, A, Serra, E, Gamble, V, Turco, AE, Harris, PC & Estivill, XP 1998, 'Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families', Human Mutation, vol. 11, no. 1.
Torra R, Badenas C, Peral B, Darnell A, Serra E, Gamble V et al. Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. Human Mutation. 1998;11(1).
Torra, R. ; Badenas, C. ; Peral, B. ; Darnell, A. ; Serra, E. ; Gamble, V. ; Turco, A. E. ; Harris, P. C. ; Estivill, Xavier P. / Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. In: Human Mutation. 1998 ; Vol. 11, No. 1.
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