In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease

D. O. Kleindorfer, S. R. Dlouhy, V. M. Pratt, M. C. Jones, J. A. Trofatter, M. E. Hodes

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3- generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP.

Original languageEnglish (US)
Pages (from-to)405-407
Number of pages3
JournalAmerican journal of medical genetics
Volume55
Issue number4
DOIs
StatePublished - Mar 21 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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