Work

Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease

Year: 1993

Type: article

Study design: Case Report

Abstract: Blot hybridization was used to find DNA sequences missing in a male who lacked two-thirds of Xq25. The probes were used to discover two additional males with deletions resulting in X-linked lymphoproliferative disease (XLP). All three deletions have a region in common, and DXS739 is within this candidate region. The new deletions were also detectable using chromosome banding, and the smallest removes only one-third of Xq25. XLP is the only consequence of the deletions.

Source: Genomics

DOI: 10.1006/geno.1993.1169

Authors: James Skare, Bai-Lin Wu, Suneeta Madan, Venkat Pulijaal, David Purtilo, Daniel Haber, David Nelson, Bakary Sylla, Helen Grierson, Harold Nitowsky, Joy Glaser, Julie Wissink, Bradley White, Jeanette Holden, David Housman, Gilbert Lenoir, Herman Wyandt, Aubrey Milunsky

Institutions: Boston University, Albert Einstein College of Medicine, Baylor College of Medicine, Queen's University, Jacobi Medical Center, Centre international de recherche sur le cancer, University of Nebraska Medical Center, Massachusetts Institute of Technology, McMaster University

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,980

Funders: National Institutes of Health, National Cancer Institute

Awards: G1471244985, GENETICS OF THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME

OpenAlex ID: W2060619645

FWCI: 1.602

Cites:

Cited by: 27

Related to: 10