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Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

Tsai-Jung Lu1, Tzu-Hung Hsiao2, Jiaan-Der Wang3

  • 1Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan; Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taipei, Taiwan.

Taiwanese Journal of Obstetrics & Gynecology
|January 31, 2023
PubMed
Abstract

Keywords:
GBA geneHydrops fetalisPerinatal lethal Gaucher diseaseWhole-exome sequencing

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