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 journalArticle

9 Citations (Scopus)

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

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Introns
Exons
Proteins
Amino Acids
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease. / Kleindorfer, D. O.; Dlouhy, S. R.; Pratt, V. M.; Jones, M. C.; Trofatter, J. A.; Hodes, M. E.

In: American journal of medical genetics, Vol. 55, No. 4, 21.03.1995, p. 405-407.

Research output: Contribution to journalArticle

Kleindorfer, D. O. ; Dlouhy, S. R. ; Pratt, V. M. ; Jones, M. C. ; Trofatter, J. A. ; Hodes, M. E. / In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease. In: American journal of medical genetics. 1995 ; Vol. 55, No. 4. pp. 405-407.
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