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A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
Second Department of Internal Medicine, Osaka University Medical School, Japan.
A to G transversion was identified in exon 4 of transthyretin gene in familial amyloidotic polyneuropathy in two sibling cases living in Osaka. This transversion led to the replacement of tyrosine by cysteine residue at codon 114 of 127 residue molecule. This identification was achieved by randomly sequencing recombinant clones containing the entire length of each one of the four exons selectively amplified by polymerase chain reaction. Dot blot analysis with allele-specific oligonucleotides indicated the linkage of this mutation with the disease and confirmed the single base change.
PMID: 2161654 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.
Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE.
Protein Sci. 2003 Aug; 12(8):1775-85.
[Protein Sci. 2003]
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Transthyretin gene mutations in British and French patients with amyloid neuropathy.
Bhatia K, Reilly M, Adams D, Davis MB, Hawkes CH, Thomas PK, Said G, Harding AE.
J Neurol Neurosurg Psychiatry. 1993 Jun; 56(6):694-7.
[J Neurol Neurosurg Psychiatry. 1993]
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Structure of Met30 variant of transthyretin and its amyloidogenic implications.
Terry CJ, Damas AM, Oliveira P, Saraiva MJ, Alves IL, Costa PP, Matias PM, Sakaki Y, Blake CC.
EMBO J. 1993 Feb; 12(2):735-41.
[EMBO J. 1993]
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