Article

Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: case report with a novel mutation

2022-04-18

Abstract excerpt

<title>Abstract</title> <p>Background Gaucher disease (GD) is a rare autosomal recessive hereditary lysosomal storage disease. It is caused by glucocerebrosidase (<italic>GBA1</italic>) gene mutation that leads to decreased activity of acid β-glucosidase (glucocerebrosidase [GCase]). GD genotype-phenotype correlation is not fully understood. The aim of the current study was to identify and characterize compound...

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Literature Corpus work: b60012f3-ffba-5c83-9e09-7ad36616e451
DOI: 10.21203/rs.3.rs-1559790/v1

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