Pelizaeus-merzbacher-like disease caused by AIMP1/p43 homozygous mutation

Keyphrases

• Homozygous mutation 100%
• Pelizaeus-Merzbacher Disease 100%
• AIMP1 100%
• PLP1 50%
• Bedouin 50%
• GJC2 50%
• HSPD1 50%
• Orthologs 25%
• Autosomal Recessive 25%
• Israeli 25%
• Mutant Mice 25%
• Disease-associated 25%
• Radiological Findings 25%
• Kindred 25%
• Multifunctional Protein 25%
• Mutation Analysis 25%
• Consanguineous 25%
• X-linked 25%
• Activity Domains 25%
• Neural Systems 25%
• Axonal Integrity 25%
• Mapping Analysis 25%
• Homozygosity Mapping 25%
• Associated Phenotypes 25%
• All-affected 25%
• Homozygous Frameshift mutation 25%
• Hypomyelinating Leukodystrophy 25%

Biochemistry, Genetics and Molecular Biology

• GJC2 100%
• Orthology 50%
• Gene Linkage 50%
• Mouse Mutant 50%
• Frameshift Mutation 50%
• Autosomal Recessive Inheritance 50%
• Synapsin I 50%
• Multifunctional Protein 50%
• Homozygosity 50%
• Axon 50%
• Pelizaeus-Merzbacher Disease 50%