Article
Prenatal diagnosis of Gaucher disease using next-generation sequencing.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Sept 2016
Yoshida Shinichiro, Kido Jun, Matsumoto Shirou, Momosaki Ken, Mitsubuchi Hiroshi, Shimazu Tomoyuki, Sugawara Keishin, Endo Fumio, Nakamura Kimitoshi
Abstract excerpt
In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this...
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