Familial amyloidotic polyneuropathy

transthyretin (prealbumin) variants in kindreds of Italian origin

Maria João Mascarenhas Saraiva, Pedro P. Costa, Maria do Rosário Almeida, Angelika Banzhoff, Klaus Altland, Alessandra Ferlini, Guido Rubboli, Rosaria Plasmati, Carlo A. Tassinari, Giovanni Romeo, Fabrizio Salvi

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.

Original languageEnglish
Pages (from-to)341-343
Number of pages3
JournalHuman Genetics
Volume80
Issue number4
DOIs
Publication statusPublished - Dec 1988

Fingerprint

Prealbumin
Polyneuropathies
Isoelectric Focusing
Cyanogen Bromide
Immunoblotting
Epidemiologic Studies
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Saraiva, M. J. M., Costa, P. P., Almeida, M. D. R., Banzhoff, A., Altland, K., Ferlini, A., ... Salvi, F. (1988). Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Human Genetics, 80(4), 341-343. https://doi.org/10.1007/BF00273648

Familial amyloidotic polyneuropathy : transthyretin (prealbumin) variants in kindreds of Italian origin. / Saraiva, Maria João Mascarenhas; Costa, Pedro P.; Almeida, Maria do Rosário; Banzhoff, Angelika; Altland, Klaus; Ferlini, Alessandra; Rubboli, Guido; Plasmati, Rosaria; Tassinari, Carlo A.; Romeo, Giovanni; Salvi, Fabrizio.

In: Human Genetics, Vol. 80, No. 4, 12.1988, p. 341-343.

Research output: Contribution to journalArticle

Saraiva, MJM, Costa, PP, Almeida, MDR, Banzhoff, A, Altland, K, Ferlini, A, Rubboli, G, Plasmati, R, Tassinari, CA, Romeo, G & Salvi, F 1988, 'Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin', Human Genetics, vol. 80, no. 4, pp. 341-343. https://doi.org/10.1007/BF00273648
Saraiva MJM, Costa PP, Almeida MDR, Banzhoff A, Altland K, Ferlini A et al. Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Human Genetics. 1988 Dec;80(4):341-343. https://doi.org/10.1007/BF00273648
Saraiva, Maria João Mascarenhas ; Costa, Pedro P. ; Almeida, Maria do Rosário ; Banzhoff, Angelika ; Altland, Klaus ; Ferlini, Alessandra ; Rubboli, Guido ; Plasmati, Rosaria ; Tassinari, Carlo A. ; Romeo, Giovanni ; Salvi, Fabrizio. / Familial amyloidotic polyneuropathy : transthyretin (prealbumin) variants in kindreds of Italian origin. In: Human Genetics. 1988 ; Vol. 80, No. 4. pp. 341-343.
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