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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Maryam Hassanlou, Maryam Abiri, Sirous Zeinali
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Shahid Sadoughi University of Medical Sciences 2022-12-01
Цуврал:	International Journal of Reproductive BioMedicine
Нөхцлүүд:	argininosuccinate synthetase, chorionic villus sampling, point mutation.
Онлайн хандалт:	https://doi.org/10.18502/ijrm.v20i12.12567
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!