Cited by 833Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune DisordersBlood disorders and treatments

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Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

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Royer-Pokora, Brigitte, Kunkel, Louis M., Monaco, Anthony P., Goff, Sabra C., Newburger, Peter E., Baehner, Robert L., Cole, F. Sessions, Curnutte, John T., Orkin, Stuart H.·1986·Nature

DOI 10.1038/322032a0

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Abstract

The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

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Authors: Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H.
Affiliations: Harvard University (US)
University of Massachusetts Chan Medical School (US)
University of Michigan (US)
Boston Children's Hospital (US)
ORCID: Kunkel, Louis M.
Monaco, Anthony P.
Newburger, Peter E.
Orkin, Stuart H.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1986-07
Volume: 322
Issue: 6074
Pages: 32-38
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/322032a0
OpenAlex: W2040096357
Cited by: 833
References: 43
Citations by year: 2026: 7 · 2025: 5 · 2024: 2 · 2023: 13 · 2022: 5 · 2021: 17 · 2020: 8 · 2019: 13 · 2018: 10 · 2017: 11 · 2016: 18 · 2015: 12 · 2014: 16 · 2013: 19 · 2012: 14
FWCI: 26.84
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Deep Blue (University of Michigan) (submittedVersion)
Funders: National Cancer Institute (CA 38325)
National Institute of Allergy and Infectious Diseases (AI-21320)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD18661)
Topics: Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Keywords: chronic granulomatous disease, gene cloning, X-linked inheritance, chromosome mapping, phagocytes, gene expression, nucleotide sequence
MeSH terms: Amino Acid Sequence, Base Sequence, Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, DNA, Gene Expression Regulation, Granulomatous Disease, Chronic, Humans, RNA, Tissue Distribution, Transcription, Genetic, Leukemia, Myeloid, Acute

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Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

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