Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family with PMLD, we performed a genomewide linkage scan using the GeneChip Mapping EA...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, Thiele, Holger, Stoltenburg-Didinger, Gisela, Aksu, Fuat, Topaloğlu, Haluk, Nürnberg, Peter, Hübner, Christoph, Weschke, Bernhard, Gärtner, Jutta
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1216059/
https://ncbi.nlm.nih.gov/pubmed/15192806
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados