Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The designation of mutations

E Beutler

    American Journal of Human Genetics
    |September 1, 1993
    PubMed
    Summary

    No abstract available in PubMed .

    Related Experiment Videos

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    1342C mutation in Gaucher's disease.

    Lancet (London, England)·1995
    Same author

    Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.

    American journal of hematology·1995
    Same author

    Gaucher disease.

    Medicine·1995
    Same author

    Treatment regimens in Gaucher's disease.

    Lancet (London, England)·1995
    Same author

    Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

    The Journal of clinical investigation·1995
    Same author

    Erythrocyte fragility and chronic intermittent pigmenturia in a dog.

    Journal of the American Veterinary Medical Association·1995
    Same journal

    Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

    American journal of human genetics·2026
    Same journal

    Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

    American journal of human genetics·2026
    Same journal

    Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

    American journal of human genetics·2026
    Same journal

    A transparent and generalizable deep-learning framework for genomic ancestry prediction.

    American journal of human genetics·2026
    Same journal

    Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

    American journal of human genetics·2026
    Same journal

    Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

    American journal of human genetics·2026
    See all related articles