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Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
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PubMed
subject areas
Adult
Amino Acid Sequence
Animals
Blotting, Northern
Child
Chromosome Mapping
Chromosomes, Human, Pair 19
DNA
DNA Mutational Analysis
DNA, Complementary
Family Health
Female
Gene Expression
Genes
Genes, Recessive
Hereditary Sensory and Motor Neuropathy
Humans
In Situ Hybridization, Fluorescence
Male
Membrane Proteins
Mice
Middle Aged
Molecular Sequence Data
Mutation
Mutation, Missense
Pedigree
Phenotype
RNA, Messenger
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Tissue Distribution
authors with profiles
JAMES LUPSKI
PAWEL STANKIEWICZ