Article
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
PLoS genetics - 1 Jan 2015
Murdoch John D, Gupta Abha R, Sanders Stephan J, Walker Michael F, Keaney John, Fernandez Thomas V, Murtha Michael T, Anyanwu Samuel, Ober Gordon T, Raubeson Melanie J, DiLullo Nicholas M, Villa Natalie, Waqar Zainabdul, Sullivan Catherine, Gonzalez Luis, Willsey A Jeremy, Choe So-Yeon, Neale Benjamin M, Daly Mark J, State Matthew W
Abstract excerpt
Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide...
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