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Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within th...

詳細記述

保存先:
書誌詳細
出版年:Genomics
主要な著者: Cabral, Rita M., Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Petukhova, Lynn, Christiano, Angela M.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4362535/
https://ncbi.nlm.nih.gov/pubmed/22289416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2012.01.005
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