The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13
Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3–0.55%. We h...
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1994
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fthighwire:oai:open-archive.highwire.org:hmg:3/10/1789 2023-05-15T17:44:19+02:00 The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 Lind, Lisbet Lundström, Anita Hofer, Per-Åke Holmgren, Gösta 1994-10-01 00:00:00.0 text/html http://hmg.oxfordjournals.org/cgi/content/short/3/10/1789 https://doi.org/10.1093/hmg/3.10.1789 en eng Oxford University Press http://hmg.oxfordjournals.org/cgi/content/short/3/10/1789 http://dx.doi.org/10.1093/hmg/3.10.1789 Copyright (C) 1994, Oxford University Press REPORTS TEXT 1994 fthighwire https://doi.org/10.1093/hmg/3.10.1789 2015-02-28T18:33:01Z Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3–0.55%. We have examined two families with this type of palmoplantar keratoderma and localized the causative genetic defect to a 14 cM interval on chromosome 12q11 -q13, a region known to contain the keratin type II gene cluster as well as the retinoic acid receptor γ gene. The palmoplantar keratoderma variant investigated in this study is thus genetically different from epidermolytic palmoplantar keratoderma, which recently has been shown to result from mutations in the gene for the type I keratin 9. Text Northern Sweden HighWire Press (Stanford University) Human Molecular Genetics 3 10 1789 1793 |
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HighWire Press (Stanford University) |
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English |
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REPORTS Lind, Lisbet Lundström, Anita Hofer, Per-Åke Holmgren, Gösta The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
topic_facet |
REPORTS |
description |
Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3–0.55%. We have examined two families with this type of palmoplantar keratoderma and localized the causative genetic defect to a 14 cM interval on chromosome 12q11 -q13, a region known to contain the keratin type II gene cluster as well as the retinoic acid receptor γ gene. The palmoplantar keratoderma variant investigated in this study is thus genetically different from epidermolytic palmoplantar keratoderma, which recently has been shown to result from mutations in the gene for the type I keratin 9. |
format |
Text |
author |
Lind, Lisbet Lundström, Anita Hofer, Per-Åke Holmgren, Gösta |
author_facet |
Lind, Lisbet Lundström, Anita Hofer, Per-Åke Holmgren, Gösta |
author_sort |
Lind, Lisbet |
title |
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
title_short |
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
title_full |
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
title_fullStr |
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
title_full_unstemmed |
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 |
title_sort |
gene for diffuse palmoplantar keratoderma of the type found in northern sweden is localized to chromosome 12q11-q13 |
publisher |
Oxford University Press |
publishDate |
1994 |
url |
http://hmg.oxfordjournals.org/cgi/content/short/3/10/1789 https://doi.org/10.1093/hmg/3.10.1789 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
http://hmg.oxfordjournals.org/cgi/content/short/3/10/1789 http://dx.doi.org/10.1093/hmg/3.10.1789 |
op_rights |
Copyright (C) 1994, Oxford University Press |
op_doi |
https://doi.org/10.1093/hmg/3.10.1789 |
container_title |
Human Molecular Genetics |
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3 |
container_issue |
10 |
container_start_page |
1789 |
op_container_end_page |
1793 |
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1766146529986347008 |