A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia

Hum Mutat. 1996;8(4):384-5. doi: 10.1002/(SICI)1098-1004(1996)8:4<384::AID-HUMU17>3.0.CO;2-Z.

Authors

A Donnelly¹, A Colley, D Crimmins, J Mulley

Affiliation

¹ Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia.

PMID: 8956049
DOI: 10.1002/(SICI)1098-1004(1996)8:4<384::AID-HUMU17>3.0.CO;2-Z

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Chromosome Mapping
Exons
Female
Genetic Carrier Screening
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Myelin Proteolipid Protein / genetics*
Paraplegia / genetics*
Point Mutation*
Restriction Mapping
X Chromosome*

Substances

Genetic Markers
Myelin Proteolipid Protein