Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

The purpose of this study was to confirm linkage of the proteolipid protein gene (PLP) and Pelizaeus-Merzbacher disease (PMD). A T-->A transversion in nucleotide pair 35 of exon 4 of PLP was found in a large Finnish kindred with PMD. This mutation results in the substitution Val165-->Glu165. W...

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Veröffentlicht in:	American journal of human genetics 1993-06, Vol.52 (6), p.1053-1056
Hauptverfasser:	PRATT, V. M, KIEFER, J. R, LÄHDETIE, J, SCHLEUTKER, J, HODES, M. E, DLOUHY, S. R
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences CELL CONSTITUENTS CELL MEMBRANES CENTRAL NERVOUS SYSTEM CHROMOSOMES Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diffuse Cerebral Sclerosis of Schilder - genetics DISEASES DNA Mutational Analysis DNA, Single-Stranded Female Finland GENE MUTATIONS GENES Genetic Linkage HETEROCHROMOSOMES HUMAN CHROMOSOMES HUMAN X CHROMOSOME Humans linkage analysis LIPIDS LIPOPROTEINS Male man Medical sciences MEMBRANES Molecular Sequence Data mutation MUTATIONS MYELIN Myelin Proteins - genetics Myelin Proteolipid Protein NERVOUS SYSTEM NERVOUS SYSTEM DISEASES Neurology ORGANIC COMPOUNDS Pedigree Pelizaeus-Merzbacher disease Point Mutation Polymorphism, Genetic PROTEINS proteolipid protein X Chromosome X CHROMOSOME 550400 > Genetics
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