Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing

Biochemistry, Genetics and Molecular Biology

• DNA Sequence 100%
• Allele 66%
• Single Nucleotide Polymorphism 66%
• Missense 66%
• Missense Mutation 33%
• Gene Mutation 33%
• Gene Frequency 33%
• Next Generation Sequencing 33%
• Indel 33%
• Autosomal Recessive Inheritance 33%

Medicine and Dentistry

• Rectum Tumor 100%
• Atypical Teratoid Rhabdoid Tumor 25%
• Phyllodes Tumor 25%
• Papilloma 25%
• Melanotic Neuroectodermal Tumor of Infancy 25%
• Rare Tumor 12%
• Indel Mutation 12%
• Next Generation Sequencing 12%
• Missense Mutation 12%
• Nonsense Mutation 12%
• Polycystic Kidney Disease 12%
• Tumor Pathology 12%

Pharmacology, Toxicology and Pharmaceutical Science

• Rectum Tumor 100%
• Neuroectoderm Tumor 20%
• Papilloma 20%
• Melanotic Neuroectodermal Tumor of Infancy 20%
• Kidney Polycystic Disease 10%