Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G [Formula: see text] A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
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Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth. ... ...
