Associated Papers
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
Kim JH et al.
Molecules and Cells, 2004
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B et al.
American Journal of Human Genetics, 1999
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