Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated “the NC...

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主要な著者: Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, Lakhdar, Hakima, Wollenberg, Andreas, Verret, Jean-Luc, Weissenbach, Jean, Özgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2001
主題:
Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274347/
https://ncbi.nlm.nih.gov/pubmed/11590543
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