A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy.

doi:10.1002/humu.1380030313

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Article

A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy.

Human mutation - 1 Jan 1994

Jacobson D R, Buxbaum J N

Abstract excerpt

Transthyretin (TTR) isolated from amyloid fibrils from an Israeli patient ("SKO") with familial amyloidotic polyneuropathy has been studied by two groups of investigators. Originally, a position 49 Thr-->Gly substitution was reported; subsequently, a position 33 Phe-->Ile substitution was found i...

Topics

Alleles
Amino Acid Sequence
Amyloid Neuropathies
Base Sequence
DNA
DNA Primers
Exons
Humans
Introns
Isoleucine
Israel
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Prealbumin
Restriction Mapping
Serine

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