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  • 1
    Electronic Resource
    Electronic Resource
    Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis (1995)
    Springer
    Journal of neurology 242 (1995), S. 332-334 
    Details
    ISSN: 1432-1459
    Keywords: Multiple sclerosis ; Mitochondrial ; DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract There is some evidence that mitochondrial genes may contribute to susceptibility to multiple sclerosis (MS), and a mitochondrial DNA-encoded peptide, the N-terminal portion of NADH-dehydrogenase subunit 1, acts as a transplantation antigen in mice. We have analysed the DNA sequence of the corresponding region of human mitochondria) DNA in 87 patients with MS, 10 with Leber's hereditary optic neuropathy in association with an MS like illness, and 31 control subjects. This sequence appears to be highly conserved. Only three base pair changes were identified, each being found once only in one control and two patients, and these are likely to be harmless polymorphisms. There is thus no evidence that polymorphism in this region contributes to genetic susceptibility in MS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00878877
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77) (1995)
    Springer
    Journal of neurology 242 (1995), S. 664-668 
    Details
    ISSN: 1432-1459
    Keywords: Familial amyloid polyneuropathy ; Haplotype analysis ; Transthyretin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder originally and most frequently described in Portugal. The usual constituent amyloid fibril protein is transthyretin (TTR) and the most frequent mutation in the TTR gene associated with FAP (including all Portuguese cases) is that at position 30 (met 30). Three different TTR haplotypes have been described in association with the met 30 mutation in European patients. We studied the haplotypes of 27 families (24 French, 2 British and 1 Greek) with FAP met 30 by analysing three polymorphisms in introns of the TTR gene. We also studied 6 families (2 British, 3 French and 1 Spanish) with FAP tyr 77. There were two main haplotypes in French patients with FAP met 30, one most commonly seen in the French families of Portuguese descent which was the same haplotype as previously described in Portuguese patients (haplotype I) and another haplotype (III) detected in most informative French families not of Portuguese origin. The age of onset of symptoms was consistently later in French than in Portuguese patients and in patients with haplotype III as the disease-associated haplotype rather than haplotype I. British and French patients with the tyr 77 mutation had different haplotypes. The most likely explanation of these findings is multiple founders of both mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00866917
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    Paper (German National Licenses)
    Fulltext
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