ArticleMolecular genetics and metabolism2018
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.Cellular and molecular life sciences : CMLS · 2026Article
- Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025Review
- Case Report: A case of surgical and enzyme replacement therapy for type I Gaucher disease complicating femoral shaft pathological fracture.Frontiers in surgery · 2025Article
- Experience in Genetic Counseling forMovement disorders clinical practice · 2021Article
- Next-Generation Sequencing Analysis ofFrontiers in genetics · 2021Article
- Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal resessive Mendelian disorders usually result from two inherited disease-causing mutations. However, this is not always the case. Focusing on Gaucher disease, which results from mutations in GBA1, we found that more comprehensive genotyping revealed important exceptions. For example, patients with uniparental disomy or new mutations do not inherit a mutation from each parent. Furthermore, we identified patients found to carry more than one GBA1 mutation on the same allele. It is essential to examine the entire GBA1 gene in order to establish an accurate genotype. Missing the second mutation can complicate genotype/phenotype studies and result in improper genetic counseling.
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