Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

Irma Dianzani, Per M. Knappskog, Luisa De Sanctis, Sergio Giannattasio, Enrica Riva, Alberto Ponzone, Jaran Apold, Clara Camaschella

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)247-249
Number of pages3
JournalHuman Mutation
Volume6
Issue number3
DOIs
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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