Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

Keyphrases

• Pathogenic Genes 100%
• Chinese Patients 100%
• Clinical Characteristics 100%
• Characteristic Genes 100%
• Paget's Disease of Bone 100%
• Gene Identification 100%
• Heterozygous Missense mutation 60%
• Amyotrophic Lateral Sclerosis 40%
• Neurodegeneration 40%
• Age of Onset 40%
• CAPN2 40%
• HNRNPA2B1 40%
• WNT16 40%
• NUP205 40%
• Lesion Site 40%
• SQSTM1 Gene 40%
• NUP214 40%
• China 20%
• Bioinformatics Analysis 20%
• Serum Levels 20%
• Genomic DNA (gDNA) 20%
• Peripheral Blood 20%
• Disease Genes 20%
• Osteoarthritis 20%
• Biochemical Indices 20%
• Tibia 20%
• Early Onset 20%
• Potential Diseases 20%
• Bone Turnover Markers 20%
• Clinical Features 20%
• Skin Temperature 20%
• Male Patients 20%
• Spine 20%
• Severe Symptoms 20%
• Genetic Factors 20%
• Femur 20%
• Alkaline Phosphatase 20%
• Bone Phenotype 20%
• Radiographic Evaluation 20%
• Pelvis 20%
• Female-to-male 20%
• Gene Pathway 20%
• Whole Exome Sequencing 20%
• Skull 20%
• Gene mutation 20%
• Bone Pain 20%
• Pathogenicity 20%
• Local Swelling 20%
• Misdiagnosis Rate 20%
• Genetic Abnormalities 20%
• Pathological Fracture 20%
• Bone Deformity 20%
• RYR1 Gene 20%
• RYR1 20%
• RYR3 Gene 20%
• RYR3 20%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• RYR1 66%
• RYR3 66%
• CAPN2 66%
• Genetics 33%
• Genomics 33%
• Bioinformatics 33%
• Blood Level 33%
• Bone Turnover 33%
• Gene Mutation 33%
• Alkaline Phosphatase 33%
• Genetic Determinism 33%
• Exome Sequencing 33%
• Skin Temperature 33%