Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel, C F; Takashima, H; Stankiewicz, P; Garcia, C A; Leber, S M; Rhee-Morris, L; Lupski, J R

Boerkoel, C F; Takashima, H; Stankiewicz, P; Garcia, C A; Leber, S M; Rhee-Morris, L; Lupski, J R.

Affiliation

Boerkoel CF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Am J Hum Genet ; 68(2): 325-33, 2001 Feb.

Article in En | MEDLINE | ID: mdl-11133365

Subject(s)

Hereditary Sensory and Motor Neuropathy/genetics; Membrane Proteins/genetics; Adult; Amino Acid Sequence; Animals; Blotting, Northern; Child; Chromosome Mapping; Chromosomes, Human, Pair 19/genetics; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; DNA, Complementary/chemistry; DNA, Complementary/genetics; Family Health; Female; Gene Expression; Genes/genetics; Genes, Recessive; Hereditary Sensory and Motor Neuropathy/pathology; Humans; In Situ Hybridization, Fluorescence; Male; Mice; Middle Aged; Molecular Sequence Data; Mutation; Mutation, Missense; Pedigree; Phenotype; RNA, Messenger/genetics; RNA, Messenger/metabolism; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Tissue Distribution

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Motor Neuropathy / Membrane Proteins Language: En Journal: Am J Hum Genet Year: 2001 Type: Article Affiliation country: United States

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