Associated Papers
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
Lorenz B et al.
Investigative Ophthalmology & Visual Science, 2008
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005
Mitochondrial phosphate transport protein. replacements of glutamic, aspartic, and histidine residues affect transport and protein conformation and point to a coupled proton transport path.
Phelps A et al.
Biochemistry, 1996
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