Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ=0.0) fo...

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Autori principali: Betz, Regina C., Planko, Laura, Eigelshoven, Sibylle, Hanneken, Sandra, Pasternack, Sandra M., Büssow, Heinrich, Bogaert, Kris Van Den, Wenzel, Joerg, Braun-Falco, Markus, Rütten, Arno, Rogers, Michael A., Ruzicka, Thomas, Nöthen, Markus M., Magin, Thomas M., Kruse, Roland
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380294/
https://ncbi.nlm.nih.gov/pubmed/16465624
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