New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software-Reference-Cited by-同舟云学术

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

Published:2021 Issue: Volume:19 Page:4265-4272
ISSN:2001-0370
Container-title:Computational and Structural Biotechnology Journal
language:en
Short-container-title:Computational and Structural Biotechnology Journal

Author:

Pyromali Ioanna^ORCID,Perani Alexandre^ORCID,Nizou Angélique,Benslimane Nesrine^ORCID,Derouault Paco^ORCID,Bourthoumieu Sylvie,Fradin Mélanie^ORCID,Sole Guilhem^ORCID,Duval Fanny,Gomes Constantin,Favreau Frédéric^ORCID,Sturtz Franck^ORCID,Magdelaine Corinne^ORCID,Lia Anne-Sophie

Publisher

Elsevier BV

Subject

Computer Science Applications,Genetics,Biochemistry,Structural Biology,Biophysics,Biotechnology

Reference32 articles.

1. DNA duplication associated with charcot-marie-tooth disease type 1A;Lupski;Cell,1991

2. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A;Matsunami;Nat Genet.,1992

3. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A;Valentijn;Nat Genet,1992

4. The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease Type 1A duplication;Timmerman;Nat Genet,1992

5. Charcot-Marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

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