Associated Papers
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2000
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
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