Abstract
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinemia / genetics*
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Amino Acid Sequence
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Base Sequence
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Chromosome Mapping
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Female
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Genes, src*
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Humans
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Karyotyping
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Leukemia, Lymphocytic, Chronic, B-Cell / genetics
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Lymphocytes / physiology*
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Molecular Sequence Data
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Multigene Family
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Oligodeoxyribonucleotides
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Organ Specificity
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Point Mutation*
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Polymerase Chain Reaction
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Protein-Tyrosine Kinases / genetics*
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Recombination, Genetic
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Saccharomyces cerevisiae / genetics
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Sequence Homology, Amino Acid
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Transcription, Genetic
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X Chromosome*
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alpha-Galactosidase / genetics
Substances
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Oligodeoxyribonucleotides
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Protein-Tyrosine Kinases
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alpha-Galactosidase