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A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus‐Merzbacher disease


Pratt, Victoria M; Trofatter, James A; Schinzel, Albert; Dlouhy, S R; Conneally, P M; Hodes, M E (1991). A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus‐Merzbacher disease. American Journal of Medical Genetics, 38(1):136-139.

Abstract

A C‐to‐T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus–Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.

Abstract

A C‐to‐T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus–Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Pelizaeus–Merzbacher disease, X chromosome, missense mutation, proteolipid protein, PLP gene
Language:English
Date:1 January 1991
Deposited On:25 Oct 2023 14:58
Last Modified:29 Apr 2024 01:40
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.1320380129
PubMed ID:1707231
Other Identification Number:Corpus ID: 41886524