Related Experiment Video

Updated: Jun 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data

Carlos R Ferreira1

  • 1National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 9N248B, Bethesda, MD 20892-1851, United States.

Molecular Genetics and Metabolism Reports
|January 28, 2017
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Adenylosuccinate lyaseHardy-Weinberg equilibriumPrevalence

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

2.5K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Probability Laws01:49

Probability Laws

Overview
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...