Mutation Analysis in Rett Syndrome
Author:
Affiliation:
1. Center for Human Genetics and the Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065701753617462
Reference30 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms
4. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
5. Rett syndrome.
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1. Enseñanza de funciones comunicativas orientadas a la interacción social en un caso de síndrome de Rett;Revista de Logopedia, Foniatría y Audiología;2022-10
2. Gene Editing and Rett Syndrome: Does It Make the Cut?;The CRISPR Journal;2022-08-01
3. Documentación de habilidades comunicativas y de lenguaje receptivo en un caso de Síndrome de Rett;Revista de Investigación en Logopedia;2022-04-06
4. MECP2-related conditions in males: A systematic literature review and 8 additional cases;European Journal of Paediatric Neurology;2021-09
5. Two novel mutations in the MECP2 gene in patients with Rett syndrome;Gene;2020-03
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