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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

BACKGROUND: The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the short arm of human chromosome X at p21.1. The hypothesis that mutations in the TM...

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Detalles Bibliográficos
Autores principales: Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC517934/
https://www.ncbi.nlm.nih.gov/pubmed/15345028
http://dx.doi.org/10.1186/1471-2350-5-22