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

Overview of attention for article published in BMC Medical Genetics, September 2004
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Title
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Published in
BMC Medical Genetics, September 2004
DOI 10.1186/1471-2350-5-22
Pubmed ID
Authors

Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe

Abstract

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 hereditary X-linked mental retardation (XLMR).

Mendeley readers

The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 38%
Student > Ph. D. Student 2 25%
Researcher 1 13%
Professor 1 13%
Unknown 1 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 2 25%
Psychology 1 13%
Biochemistry, Genetics and Molecular Biology 1 13%
Medicine and Dentistry 1 13%
Neuroscience 1 13%
Other 0 0%
Unknown 2 25%