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

14 Citations (Scopus)
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)

Cite this

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease). / Tsujino, Seiichi; Shanske, Sara; Martinuzzi, Andrea; Heiman-Patterson, Terry; DiMauro, Salvatore.

In: Human Mutation, Vol. 6, No. 3, 1995, p. 276-277.

Research output: Contribution to journalArticle

Tsujino, Seiichi ; Shanske, Sara ; Martinuzzi, Andrea ; Heiman-Patterson, Terry ; DiMauro, Salvatore. / Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease). In: Human Mutation. 1995 ; Vol. 6, No. 3. pp. 276-277.
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