Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence:
Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age...
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ftciteseerx:oai:CiteSeerX.psu:10.1.1.400.1443 2023-05-15T17:44:36+02:00 Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: S-erik Lundgren Ole B Suhr Urban Hellman Flora Alarcon Violaine Planté-bordeneuve Urban Hellman B. Sc The Pennsylvania State University CiteSeerX Archives 2009 application/pdf http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.1443 http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf en eng http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.1443 http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf Metadata may be used without restrictions as long as the oai identifier remains attached to it. http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf Key words tranthyretin amyloidosis genetics penetrance Swedish families text 2009 ftciteseerx 2016-09-25T00:18:46Z Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age at onset of the disease is observed. In Europe, northern Sweden is the second most important area of the disease, and a late age of onset of 56 years has been reported. The present work aims to estimate the penetrance in TTR-Val30Met Swedish families. Genealogical investigations, clinical data and genotyping were obtained in 77 TTR-Val30Met inserm-00359758, version 1- 9 Feb 2009 Swedish families. The penetrance in Val30Met carriers and variation within the endemic area, according to gender and transmitting parents was calculated by a newly developed bias free method. The penetrance estimates were low i.e.1.7 % and 22 % at age 30 and 60 years, respectively and far from complete (69%), by age 90 years. Differences between Piteå and Skellefteå Text Northern Sweden Piteå Unknown |
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English |
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Key words tranthyretin amyloidosis genetics penetrance Swedish families |
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Key words tranthyretin amyloidosis genetics penetrance Swedish families S-erik Lundgren Ole B Suhr Urban Hellman Flora Alarcon Violaine Planté-bordeneuve Urban Hellman B. Sc Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
topic_facet |
Key words tranthyretin amyloidosis genetics penetrance Swedish families |
description |
Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age at onset of the disease is observed. In Europe, northern Sweden is the second most important area of the disease, and a late age of onset of 56 years has been reported. The present work aims to estimate the penetrance in TTR-Val30Met Swedish families. Genealogical investigations, clinical data and genotyping were obtained in 77 TTR-Val30Met inserm-00359758, version 1- 9 Feb 2009 Swedish families. The penetrance in Val30Met carriers and variation within the endemic area, according to gender and transmitting parents was calculated by a newly developed bias free method. The penetrance estimates were low i.e.1.7 % and 22 % at age 30 and 60 years, respectively and far from complete (69%), by age 90 years. Differences between Piteå and Skellefteå |
author2 |
The Pennsylvania State University CiteSeerX Archives |
format |
Text |
author |
S-erik Lundgren Ole B Suhr Urban Hellman Flora Alarcon Violaine Planté-bordeneuve Urban Hellman B. Sc |
author_facet |
S-erik Lundgren Ole B Suhr Urban Hellman Flora Alarcon Violaine Planté-bordeneuve Urban Hellman B. Sc |
author_sort |
S-erik Lundgren |
title |
Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
title_short |
Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
title_full |
Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
title_fullStr |
Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
title_full_unstemmed |
Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence: |
title_sort |
abbreviations: fap=familial amyloidotic polyneuropathy; ttr=transthyretin correspondence: |
publishDate |
2009 |
url |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.1443 http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf |
genre |
Northern Sweden Piteå |
genre_facet |
Northern Sweden Piteå |
op_source |
http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf |
op_relation |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.1443 http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf |
op_rights |
Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
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1766146844854845440 |