Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects

Keyphrases

• Splicing Defect 100%
• Germline mutation 100%
• Multiple Endocrine Neoplasia Type 1 (MEN1) 100%
• Variation Analysis 80%
• Single Strand 80%
• Kindred 60%
• Intron Sequences 40%
• Quantitative PCR 20%
• Tumor Suppressor Gene 20%
• Genetic Studies 20%
• Direct Sequencing 20%
• Sequence Analysis 20%
• Pituitary Adenoma 20%
• Frameshift mutation 20%
• Disease-causing mutations 20%
• Missense mutation 20%
• Nonsense mutation 20%
• Splicing mutation 20%
• Clinical Diagnostic Tests 20%
• Detection Method 20%
• Duodenum 20%
• Mutation Detection 20%
• Familial Cancer Syndrome 20%
• Present Challenges 20%
• Confirmed Diagnosis 20%
• Parathyroid Hyperplasia 20%
• Menin 20%
• Neuroendocrine Tumors of the Pancreas 20%
• Aberrant RNA Splicing 20%

Biochemistry, Genetics and Molecular Biology

• Splicing Defect 100%
• Germline Mutation 100%
• Intron 40%
• Genetics 20%
• Tumor Suppressor Gene 20%
• Reverse Transcription Polymerase Chain Reaction 20%
• Protein Sequencing 20%
• Frameshift Mutation 20%
• Missense Mutation 20%
• Nonsense Mutation 20%
• RNA Splicing 20%
• Shotgun Sequencing 20%
• Duodenum 20%
• MEN1 20%
• Methionine 20%