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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Hlavní autoři:	Maryam Hassanlou, Maryam Abiri, Sirous Zeinali
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Shahid Sadoughi University of Medical Sciences 2022-12-01
Edice:	International Journal of Reproductive BioMedicine
Témata:	argininosuccinate synthetase, chorionic villus sampling, point mutation.
On-line přístup:	https://doi.org/10.18502/ijrm.v20i12.12567
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