Work

Large contiguous gene deletions in Sjögren–Larsson syndrome

Year: 2011

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2011.05.015

Authors: Holly Engelstad, Gael Carney, Dana S'Aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Christopher W. Carr, Omar A. Abdul-Rahman, William B. Rizzo

Institutions: University of Nebraska Medical Center, Emory University, University of Mississippi Medical Center

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: University of Nebraska Medical Center, National Institute for Health and Care Research, National Institutes of Health, National Institute of Mental Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G2944166669, Mechanism of subtelomeric breaks, Ichthyosis in Sjogren-Larsson Syndrome

OpenAlex ID: W2007677013

FWCI: 0.964

Cites: 52

Cited by: 22

Related to: 10