Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients.

Journal of inherited metabolic disease - 1 Aug 1997

Hodanová K, Hrebícek M, Cervenková M, Aerts J M, Zeman J

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Gaucher Disease
Share to Genotype
Share to Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 9266405
DOI: 10.1023/a:1005331814799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients.PMID 9266405Read ↗

Analysis of three mutations in Turkish children with Gaucher disease.Semantic proximity Read ↗

Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutationsSemantic proximity Read ↗

SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different PhenotypeSemantic proximity Read ↗

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.Semantic proximity Read ↗

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.Semantic proximity Read ↗

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.Semantic proximity Read ↗

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activitySemantic proximity Read ↗

[An analysis of mutations causing Gaucher disease in Chinese population].Semantic proximity Read ↗

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.Semantic proximity Read ↗

DNA mutation analysis of Gaucher patients.Semantic proximity Read ↗

Positive JAK2-V617F leading to diagnosis of Gaucher's disease.Semantic proximity Read ↗

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.