Article
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
BMC medical genetics - 2 Sept 2004
Christophe-Hobertus Christiane, Kooy Frank, Gecz Jozef, Abramowicz Marc J, Holinski-Feder Elke, Schwartz Charles, Christophe Daniel
Abstract excerpt
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 TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with...
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