Related Experiment Video

Updated: Jul 31, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Genetic heterogeneity in GM1-gangliosidosis

H Galjaard, A Hoogeveen, H A de Wit-Verbeek

    Nature
    |September 4, 1975
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Ganglioside Extraction, Purification and Profiling
    10:05

    Ganglioside Extraction, Purification and Profiling

    Published on: March 12, 2021

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
    08:56

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

    Published on: October 10, 2025

    Related Experiment Videos

    Last Updated: Jul 31, 2026

    Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
    06:33

    Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

    Published on: June 9, 2018

    Ganglioside Extraction, Purification and Profiling
    10:05

    Ganglioside Extraction, Purification and Profiling

    Published on: March 12, 2021

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
    08:56

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

    Published on: October 10, 2025

    Related Concept Videos

    Pleiotropy01:33

    Pleiotropy

    Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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

    Arrhythmogenic right ventricular dysplasia and sudden cardiac death in endurance athletes.

    Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·2015

    The diagnostic accuracy of exercise electrocardiography in asymptomatic recreational and competitive athletes.

    Scandinavian journal of medicine & science in sports·2015

    Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

    Gene·2014

    Newborn screening for hunter disease: a small-scale feasibility study.

    JIMD reports·2013

    Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

    Neuromuscular disorders : NMD·2010

    Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.

    Community genetics·2004

    Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

    International journal of molecular sciences·2026

    Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

    Genes·2026

    Site-Resolved Plasma-Protein Architecture of Infection Susceptibility: A Cis-pQTL Mendelian Randomization and Colocalization Study.

    Genes·2026

    Socioeconomic and Migration-Related Determinants of Newborn Metabolic Screening Uptake: A Case-Control Study in Urban Iran.

    Journal of immigrant and minority health·2026

    Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations.

    Stem cell research·2026

    Variable Expressiveness of a Novel Pathogenic SETD1A Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree.

    Diseases (Basel, Switzerland)·2026
    See all related articles
    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
    Jove
    Visualize
    Contact Us