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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1986-07

AUTHORS

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

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. More... »

PAGES

32-38

Journal

TITLE

Nature

ISSUE

6074

VOLUME

322

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/322032a0

DOI

http://dx.doi.org/10.1038/322032a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046966874

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2425263


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