Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene

BACKGROUND: Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K‐H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause. Routine molecular testing using Sanger sequencing...

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Publicado en:J Clin Lab Anal
Autores principales: Cnossen, Wybrich R., Maurits, Jake S.F., Salomon, Jody, te Morsche, René H.M., Waanders, Esmé, Drenth, Joost P. H.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2015
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Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6807128/
https://ncbi.nlm.nih.gov/pubmed/26365003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.21875
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