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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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Bibliografski detalji
Izdano u:Genomics
Glavni autori: Cabral, Rita M., Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Petukhova, Lynn, Christiano, Angela M.
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online pristup: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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