Literature DB >> 3340821

A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin.

M Nordlie1, K Sletten, G Husby, P J Ranløv.   

Abstract

A C-terminal fragment of a prealbumin variant was isolated from amyloid material obtained from the myocardium of a patient (Han) with familial amyloid cardiomyopathy of Danish origin. The prealbumin variant fragment was shown to have a methionine for leucine substitution in position 111.

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Year:  1988        PMID： 3340821     DOI： 10.1111/j.1365-3083.1988.tb02329.x

Source DB:  PubMed          Journal:  Scand J Immunol        ISSN： 0300-9475            Impact factor:   3.487


  15 in total

1.  A new transthyretin mutation associated with amyloid cardiomyopathy.

Authors:  M J Saraiva; M do R Almeida; W Sherman; M Gawinowicz; P Costa; P P Costa; D S Goodman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  Fibril in senile systemic amyloidosis is derived from normal transthyretin.

Authors:  P Westermark; K Sletten; B Johansson; G G Cornwell
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

3.  Nomenclature of amyloid and amyloidosis. WHO-IUIS Nomenclature Sub-Committee.

Authors: 
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408

4.  Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing.

Authors:  B Y Nordvåg; H M Riise; G Husby
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

Review 5.  Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.

Authors:  D R Jacobson; J D Reveille; J N Buxbaum
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

Review 6.  Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

Authors:  A Hesse; K Altland; R P Linke; M R Almeida; M J Saraiva; A Steinmetz; B Maisch
Journal:  Br Heart J       Date:  1993-08

7.  Transthyretin Leu 68 in a form of cardiac amyloidosis.

Authors:  M R Almeida; A Hesse; A Steinmetz; B Maisch; K Altland; R P Linke; M A Gawinowicz; M J Saraiva
Journal:  Basic Res Cardiol       Date:  1991 Nov-Dec       Impact factor: 17.165

8.  A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.

Authors:  D R Jacobson; P D Gorevic; J N Buxbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

9.  Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.

Authors:  B Y Nordvåg; I Ranløv; H M Riise; G Husby; M R el-Gewely
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

10.  Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Authors:  T Hiltunen; S Kiuru; V Hongell; T Heliö; J Palo; L Peltonen
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025
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