Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
Abstract 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. Cases presentation: 7 families from Southwest Iran having one or more children in their famil...
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| Format: | Book |
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Shahid Sadoughi University of Medical Sciences,
2022-12-01T00:00:00Z.
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A1234.567 |
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