https://www.selleckchem.com/pr....oducts/sri-011381.ht
The compound heterozygous c.68delG and c.796GC variants of the NAGS gene probably underlay the disorder in this pedigree, and the resulth asenabled genetic counseling and prenatal diagnosis for this pedigree. C variants of the NAGS gene probably underlay the disorder in this pedigree, and the resulth asenabled genetic counseling and prenatal diagnosis for this pedigree. To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency. Potential variants of the DLD gene were detected
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