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

Roser Torra, Celia Badenas, Belen Peral, Alejandro Darnell, Eduard Serra, Vicki Gamble, Alberto E. Turco, Peter C. Harris, Xavier Estivill

Research output: Contribution to journalArticle

18 Scopus citations
Original languageEnglish (US)
Pages (from-to)S117-S120
JournalHuman mutation
Volume11
Issue numberSUPPL 1
DOIs
StatePublished - Dec 1 1998

Keywords

  • ADPKD
  • Mutation
  • PKDI
  • Recurrence

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Torra, R., Badenas, C., Peral, B., Darnell, A., Serra, E., Gamble, V., Turco, A. E., Harris, P. C., & Estivill, X. (1998). Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. Human mutation, 11(SUPPL 1), S117-S120. https://doi.org/10.1002/humu.1380110139