Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency

Amrik Sahota, Ju Chen, Steven Bye, James Jaing, M. Berenyi, Gyorgy Fekete, Jay A. Tischfield

Research output: Contribution to journalArticle

6 Scopus citations
Original languageEnglish (US)
Pages (from-to)315-317
Number of pages3
JournalHuman mutation
Issue number3
StatePublished - 1994
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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