Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number

Keyphrases

• Copy number 100%
• Mutation Frequency 100%
• Frequency Distribution 100%
• Spinal muscular Atrophy 100%
• Founder Effect 100%
• Survival Motor Neuron 83%
• Missense mutation 50%
• Frameshift mutation 33%
• SMN1 Gene 33%
• Autosomal Recessive 16%
• Binding Site 16%
• Severe Disease 16%
• Gene Copy number 16%
• Exon 7 16%
• Interacting Proteins 16%
• Mild Disease 16%
• Compound Heterozygous mutation 16%
• Neuromuscular Disease 16%
• Oligomerization 16%
• 3' End 16%
• Carboxy Terminal Domain 16%
• 5′-untranslated Region (5′-UTR) 16%
• Heteroduplex Analysis 16%
• Rare Polymorphisms 16%
• Marker Data 16%
• Proximal Spinal muscular Atrophy 16%
• Ancestral Origin 16%
• Sm Proteins 16%

Biochemistry, Genetics and Molecular Biology

• Motor Neuron 100%
• Mutation Rate 100%
• Founder Effect 100%
• Missense Mutation 60%
• Frameshift Mutation 40%
• Allele 20%
• C-Terminus 20%
• Binding Site 20%
• Gene Dosage 20%
• Autosomal Recessive Inheritance 20%
• Synapsin I 20%
• Exon 20%
• Oligomerization 20%
• Heteroduplex Analysis 20%
• 5' Untranslated Region 20%