تصفح Biomedical Sciences حسب الموضوع "Mutations"
السجلات المعروضة 1 -- 3 من 3
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Canavan disease: an Arab scenario.
( Elsevier Inc. , 2015 , Article)The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with ... -
Propionic acidemia in the Arab World.
( Elsevier , 2015 , Article)The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in ... -
The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity
( Elsevier , 2023 , Article)BackgroundGNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse ...