Title : Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred.

Pub. Date : 2002 Mar

PMID : 12000196






1 Functional Relationships(s)
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1 This paper deals with a point mutation in exon 2 position 47 of the TTR gene, encoding the substitution of glycine with glutamate. Glycine transthyretin Homo sapiens