A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel resequencing of the nonrepetitive genomic linkage interval at Xq28 of family MRX3. We identified in the bindin...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Huang, Lingli, Jolly, Lachlan A., Willis-Owen, Saffron, Gardner, Alison, Kumar, Raman, Douglas, Evelyn, Shoubridge, Cheryl, Wieczorek, Dagmar, Tzschach, Andreas, Cohen, Monika, Hackett, Anna, Field, Michael, Froyen, Guy, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Kalscheuer, Vera M., Corbett, Mark A., Gecz, Jozef
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484651/
https://ncbi.nlm.nih.gov/pubmed/23000143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.011
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados