Loss of Heterozygosity Is Present in SEC63 Germline Carriers with Polycystic Liver Disease

Polycystic liver disease (PCLD) is an autosomal dominant disorder characterised by multiple fluid filled cysts in the liver. This rare disease is caused by heterozygous germline mutations in PRKCSH and SEC63. We previously found that, in patients with a PRKCSH mutation, over 76% of the cysts acquire...

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Detalles Bibliográficos
Autores principales: Janssen, Manoe J., Salomon, Jody, te Morsche, René H. M., Drenth, Joost P. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508994/
https://www.ncbi.nlm.nih.gov/pubmed/23209713
http://dx.doi.org/10.1371/journal.pone.0050324

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