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Considering that CBS deficiency is an autosomal recessive disorder and that no other alteration was detected in coding regions of the CBS gene in homocystinuric patients of this family, it is highly possible that the two novel mutations of CBS identified here are responsible for the pathogenesis of homocystinuria in this pedigree

Scanning electron microscopy (SEM) A section of the colony was removed by sliding a glass slide underneath and cutting it out of the agar plate with a coverslip

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Glutathione plays a critical role in balancing that stress and supporting smooth, healthy sperm production