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Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989
See this aricle in Pubmed

Article Abstract
The Portuguese type of familial amyloid polyneuropathy(FAP type I),a disabling autosomal dominant disorder with onset in early adult life,is caused by a point mutation in the transthyretin(TTR;previously known as prealbumin)gene.DNA analysis in thirteen European families(one British,two French,one Italian,one Greek,and eight Cypriot)showed that members of all those from Cyprus and Greece,and one from France,carried the FAP type I mutation.Patients from seven of these ten kindreds were not known to have a genetic disease before this study,which demonstrated the mutation in 16 of 43 clinically unaffected relatives.2 of these were aged over 50 years. TTR gene analysis has useful applications in genetic counseling,including prenatal diagnosis,in identifying the cause of seemingly sporadic cases of amyloid neuropathy,and in epidemiological studies of FAP.
 
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amyloid
genetic counselling
genetic neurologic disorders
molecular genetics
neuropathy
neuropathy,amyloid
neuropathy,hereditary peripheral
polyneuropathy,familial

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