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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...

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Dades bibliogràfiques
Publicat a:Genomics
Autors principals: Cabral, Rita M., Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Petukhova, Lynn, Christiano, Angela M.
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia: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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