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

Keyphrases

• Large Deletion 100%
• PRKCSH 100%
• Polycystic Liver Disease 100%
• ADPLD 87%
• Multiplex Ligation-dependent Probe Amplification 37%
• Sec63 37%
• Mutation-negative 25%
• Hepatic Cystogenesis 25%
• Diagnostic Methods 12%
• Clinical Diagnosis 12%
• Autosomal Dominant 12%
• Copy number Variation 12%
• Loss of Heterozygosity 12%
• Exon 12%
• Genomic DNA (gDNA) 12%
• Sanger Sequencing 12%
• Heavy Chain 12%
• C Substrate 12%
• Cyst 12%
• Exon Deletion 12%
• Saccharomyces Cerevisiae 12%
• General Mechanism 12%
• Mendelian Disorders 12%
• Germline 12%
• Pathogenic Variants 12%
• Molecular Testing 12%
• Germline Deletion 12%
• Protein Kinase C 12%
• Number of mutations 12%
• Unmarked Deletions 12%

Biochemistry, Genetics and Molecular Biology

• Multiplex Ligation-Dependent Probe Amplification 100%
• Germline 66%
• Germ Cell 66%
• Exon 66%
• Autosomal Dominant Inheritance 33%
• Loss of Heterozygosity 33%
• Copy-Number Variation 33%
• Heavy Chain 33%
• Protein Kinase C 33%
• Saccharomyces cerevisiae 33%
• Genomics 33%
• Dideoxynucleotide Sequencing 33%