Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Roddier, K., Thomas, T., Marleau, G., Gagnon, A., M., Dicaire, M., J., St-Denis, A., Gosselin, I., Sarrazin, A., M., Larbrisseau, A., Lambert, M., Vanasse, M., Gaudet, D., Rouleau, G., A., & Brais, B. Neurology, 64(10):1762-7, 5, 2005.
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. [link]Website  abstract   bibtex   
Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study of a French Canadian family led to the definition of HSAN2.
@article{
 title = {Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.},
 type = {article},
 year = {2005},
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 keywords = {Adult,Aged,Base Sequence,Base Sequence: genetics,Child,Child, Preschool,Chromosome Mapping,Chromosomes, Human, Pair 12,Chromosomes, Human, Pair 12: genetics,Cohort Studies,DNA Mutational Analysis,Female,Genetic Predisposition to Disease,Genetic Predisposition to Disease: genetics,Genetic Testing,Genotype,Hereditary Sensory and Autonomic Neuropathies,Hereditary Sensory and Autonomic Neuropathies: epi,Hereditary Sensory and Autonomic Neuropathies: gen,Humans,Infant,Male,Middle Aged,Mutation,Mutation: genetics,Nerve Tissue Proteins,Nerve Tissue Proteins: genetics,Pedigree,Peripheral Nerves,Peripheral Nerves: pathology,Peripheral Nerves: physiopathology,Phenotype,Prevalence,Quebec,Quebec: epidemiology},
 pages = {1762-7},
 volume = {64},
 websites = {http://www.ncbi.nlm.nih.gov/pubmed/15911806},
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 abstract = {Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study of a French Canadian family led to the definition of HSAN2.},
 bibtype = {article},
 author = {Roddier, K and Thomas, T and Marleau, G and Gagnon, A M and Dicaire, M J and St-Denis, A and Gosselin, I and Sarrazin, A M and Larbrisseau, A and Lambert, M and Vanasse, M and Gaudet, D and Rouleau, G A and Brais, B},
 journal = {Neurology},
 number = {10}
}

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