Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy
The implementation of NGS methods into clinical practice allowed researchers effectively to establish the molecular cause of a disorder in cases of a genetically heterogeneous pathology. In cases of several potentially causative variants, we need additional analysis that can help in choosing a prope...
Main Authors: | Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-06-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/12/9786 |
Similar Items
-
Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution
by: Alejandro Leal
Published: (2004-09-01) -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in <i>SAMD9L</i>-Associated Neuropathy
by: K. Eggermann, et al.
Published: (2022-12-01) -
Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica
by: Melissa Rojas-Araya, et al.
Published: (2009-11-01) -
Horizontal Transfer and Evolutionary Profiles of Two <i>Tc1/</i>DD34E Transposons (<i>ZB</i> and <i>SB</i>) in Vertebrates
by: Wenzhu Jia, et al.
Published: (2022-11-01) -
Diversity and Evolution of <i>pogo</i> and <i>Tc1/mariner</i> Transposons in the Apoidea Genomes
by: Yibing Liu, et al.
Published: (2021-09-01)