Work

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Year: 2011

Type: article

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2011.58

Authors: Keiko Shimojima, Midori Sugawara, Minobu Shichiji, Souichi Mukaida, Rumiko Takayama, Katsumi Imai, Toshiyuki Yamamoto

Institutions: Tokyo Women's Medical University, National Epilepsy Center

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Hayashi Memorial Foundation for Female Natural Scientists, Japan Society for the Promotion of Science

Awards: Gene expression analysis for neuronal cells differenciated from iPS cells generated from patients with Down syndrome, Comprehensive analysis for genomic contribution in neuron network and transcripts

OpenAlex ID: W2014091187

FWCI: 4.083

Cites: 18

Cited by: 87

Related to: 10