Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease

MeSH terms

• Computational Biology / methods*
• DNA Mutational Analysis*
• Databases, Genetic
• Genetic Predisposition to Disease
• Heredity
• Humans
• Infant
• Male
• Models, Molecular
• Mutation, Missense*
• Phenotype
• Polycystic Kidney, Autosomal Recessive / diagnosis
• Polycystic Kidney, Autosomal Recessive / enzymology
• Polycystic Kidney, Autosomal Recessive / genetics*
• Protein Conformation
• Receptors, Cell Surface / chemistry
• Receptors, Cell Surface / genetics*
• Receptors, Cell Surface / metabolism
• Structure-Activity Relationship