تصفح Biomedical Sciences حسب الموضوع "In silico mutagenesis"
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Two patients with Canavan disease and structural modeling of a novel mutation.
( Springer US , 2017 , Article)Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ...