A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

BACKGROUND: Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardation and disequilibrium syndrome types 1 (CAMRQ1), 2 (CAMR...

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Detalles Bibliográficos
Autores principales: Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495048/
https://www.ncbi.nlm.nih.gov/pubmed/22973972
http://dx.doi.org/10.1186/1471-2350-13-80

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