IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE OF A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE

Authors
KLEINDORFER DO DLOUHY SR PRATT VM JONES MC TROFATTER JA HODES ME
Citation
Do. Kleindorfer et al., IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE OF A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE, American journal of medical genetics, 55(4), 1995, pp. 405-407
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
55
Issue
4
Year of publication
1995
Pages
405 - 407
Database
ISI
SICI code
0148-7299(1995)55:4<405:IDITPP>2.0.ZU;2-Z
Abstract
We describe an in-frame deletion of parts of exons 3 and 4 of the prot eolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation r emoves 49 amino acids of the PLP. (C) 1995 Wiley-Liss, Inc.