Work

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Year: 2011

Type: article

Study design: Case Report

Source: Genetics in Medicine

DOI: 10.1097/gim.0b013e3182106775

Authors: Philip M. Boone, Pengfei Liu, Feng Zhang, Claudia M.B. Carvalho, Charles F. Towne, Sat Dev Batish, James R. Lupski

Institutions: Baylor College of Medicine, Fudan University, State Key Laboratory of Genetic Engineering, University of Massachusetts Chan Medical School, Texas Children's Hospital

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Eye Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Center for Research Resources

Awards: COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE, Medical Scientist Training Program, General Clinical Research Center, MOLECULAR GENETICS EMPHASIZING VISION RESEARCH

OpenAlex ID: W1999549976

FWCI: 2.253

Cites: 52

Cited by: 58

Related to: 10