بحث بسيط
السجلات المعروضة 1 -- 1 من 1
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 ...