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 Tischfield

Research output: Contribution to journalArticle

6 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)315-317
Number of pages3
JournalHuman mutation
Volume3
Issue number3
DOIs
StatePublished - Jan 1 1994
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency",
author = "Amrik Sahota and Ju Chen and Steven Bye and James Jaing and M. Berenyi and Gyorgy Fekete and Jay Tischfield",
year = "1994",
month = "1",
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doi = "10.1002/humu.1380030324",
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volume = "3",
pages = "315--317",
journal = "Human Mutation",
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}

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency. / Sahota, Amrik; Chen, Ju; Bye, Steven; Jaing, James; Berenyi, M.; Fekete, Gyorgy; Tischfield, Jay.

In: Human mutation, Vol. 3, No. 3, 01.01.1994, p. 315-317.

Research output: Contribution to journalArticle

TY - JOUR

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AU - Sahota, Amrik

AU - Chen, Ju

AU - Bye, Steven

AU - Jaing, James

AU - Berenyi, M.

AU - Fekete, Gyorgy

AU - Tischfield, Jay

PY - 1994/1/1

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DO - 10.1002/humu.1380030324

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SP - 315

EP - 317

JO - Human Mutation

JF - Human Mutation

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