Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)

Seiichi Tsujino, Sara Shanske, Andrea Martinuzzi, Terry Heiman-Patterson, Salvatore DiMauro

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)276-277
Number of pages2
JournalHuman Mutation
Volume6
Issue number3
DOIs
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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