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Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID ge...

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Detalles Bibliográficos
Autores principales: Niranjan, Tejasvi S., Skinner, Cindy, May, Melanie, Turner, Tychele, Rose, Rebecca, Stevenson, Roger, Schwartz, Charles E., Wang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332666/
https://www.ncbi.nlm.nih.gov/pubmed/25679214
http://dx.doi.org/10.1371/journal.pone.0116454