Merle Ruberg
- Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
2003/05/01 by H Azzedine, Hamid Azzedine, M Ruberg +15 · 44 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Biology #Cellular transport and secretion #Compound heterozygosity #Disease #Gene #Genetic Neurodegenerative Diseases #Genetics #Hereditary Neurological Disorders #Heterozygote advantage #Medicine #Mutation #Pathology #Phenotype