Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Coen, K; Pareyson, D; Auer-Grumbach, M; Buyse, G; Goemans, N; Claeys, KG; Verpoorten, N; Laura, M; Scaioli, V; Salmhofer, W; Pieber, TR; Nelis, E; De Jonghe, P; Timmerman, V.
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
NEUROLOGY. 2006; 66(5): 748-751.
Doi: 10.1212/01.wnl.0000201191.57519.47
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- Co-Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Pieber Thomas
- Salmhofer Wolfgang
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- Abstract:
- Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Base Sequence -
- Chromosome Mapping -
- Chromosomes, Human, Pair 12 -
- Exons -
- Female -
- Genotype -
- Hereditary Sensory and Autonomic Neuropathies - genetics
- Heterozygote Detection - genetics
- Humans - genetics
- Introns - genetics
- Male - genetics
- Middle Aged - genetics
- Mutation - genetics
- Nerve Tissue Proteins - genetics
- Pedigree - genetics
- Phenotype - genetics
- Sequence Deletion - genetics