ArticleWorld journal of clinical cases2022
Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- [Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Article
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Authors and funding
11 authors at 2 institutions in 1 country.
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Abstract
backgroundGaucher disease (GD) is caused by a CASE SUMMARY: Here, we report a rare adult-onset type 1 GD in a 46-year-old female patient with clinical manifestations of giant spleen, thrombocytopenia, and bone pain, diagnosed by enzymatic and genetic testing. Enzymology and whole exome sequencing revealed heterozygous missense mutations in exon 10 c.1448T>C (p.L483P) and exon 7 c.928A>G (p.S310G) of
conclusionThe p.L483P/p.S310G novel compound heterozygous mutation underlies type 1 GD and likely affects GCase protein function. This is the first description of p.S310G being associated with mild type 1 GD in the context of a coinherited p.L483P mutation.
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