Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.
Transthyretin-related hereditary (TTR) amyloidoses represent a clinically heterogeneous group of diseases associated with various point mutations of the TTR gene. We propose a molecular strategy for the diagnosis of this group of disorders.
Cattedra di Istologia ed Embriologia Generale, University of Modena, Italy.
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Ferlini
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Fini
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Salvi
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Patrosso
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Vezzoni
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Forabosco
D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D003001:Cloning, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*
D015345:Oligonucleotide Probes; D011228:Prealbumin