Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

Who cites it

9 citing papers in PubMed.

1. Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.Molecular genetics and metabolism reports · 2022
   Article
2. Gaucher disease: Basic and translational science needs for more complete therapy and management.Molecular genetics and metabolism · 2021
   Review
3. Genetics of GNE myopathy in the non-Jewish Persian population.European journal of human genetics : EJHG · 2016
   Article
4. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.The Journal of clinical investigation · 2015
   Article
5. Advances in the genetics of Parkinson disease.Nature reviews. Neurology · 2013
   Review
6. Detecting population growth, selection and inherited fertility from haplotypic data in humans.Genetics · 2003
   Article
7. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.American journal of human genetics · 2000
   Article
8. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.American journal of human genetics · 2000
   Article
9. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.American journal of human genetics · 2000
   Article

Corrections and comments

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  On the age of the most prevalent Gaucher disease-causing mutation, N370S.2000

Authors and funding

8 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

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