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Partial V(D)J recombination activity leads to Omenn syndrome
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title
Partial V(D)J recombination activity leads to Omenn syndrome
(English)
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main subject
Recombination activating 1
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stated in
GOA release 2020-03-11
immune response
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stated in
GOA release 2020-03-11
Omenn syndrome
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based on heuristic
inferred from title
author
Fabio Bozzi
object named as
F Bozzi
series ordinal
3
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Anna Villa
object named as
A Villa
series ordinal
1
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author name string
S Santagata
series ordinal
2
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S Giliani
series ordinal
4
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A Frattini
series ordinal
5
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L Imberti
series ordinal
6
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L B Gatta
series ordinal
7
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H D Ochs
series ordinal
8
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K Schwarz
series ordinal
9
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L D Notarangelo
series ordinal
10
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P Vezzoni
series ordinal
11
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E Spanopoulou
series ordinal
12
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language of work or name
English
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publication date
29 May 1998
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published in
Cell
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volume
93
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page(s)
885-96
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issue
5
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cites work
RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination
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7 January 2021
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Increased interleukin 4 and immunoglobulin E production in transgenic mice overexpressing NK1 T cells.
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Structure and mechanism of DNA topoisomerase II
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7 January 2021
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Primordial emergence of the recombination activating gene 1 (RAG1): sequence of the complete shark gene indicates homology to microbial integrases
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reference URL
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7 January 2021
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Analysis of amplified T cell receptor V beta transcripts by a non-isotopic immunoassay
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reference URL
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7 January 2021
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Mechanism of V(D)J recombination
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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In vitro cell death of activated lymphocytes in Omenn's syndrome
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7 January 2021
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Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency
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7 January 2021
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CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition
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reference URL
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7 January 2021
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In vitro V(D)J recombination: signal joint formation
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Analysis of regions of RAG-2 important for V(D)J recombination
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Rescue of T cell-specific V(D)J recombination in SCID mice by DNA-damaging agents
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reference URL
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7 January 2021
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Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).
1 reference
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reference URL
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7 January 2021
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RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination
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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
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reference URL
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7 January 2021
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Treatment of Omenn syndrome by bone marrow transplantation
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reference URL
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Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
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7 January 2021
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Growth retardation and leaky SCID phenotype of Ku70-deficient mice.
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7 January 2021
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Development of CD4+CD8+ thymocytes in RAG-deficient mice through a T cell receptor beta chain-independent pathway
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reference URL
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inferred from DOI database lookup
V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors.
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reference URL
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7 January 2021
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inferred from DOI database lookup
Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage
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The effect of antigen dose on CD4+ T helper cell phenotype development in a T cell receptor-alpha beta-transgenic model
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7 January 2021
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Development of TH1 CD4+ T cells through IL-12 produced by Listeria-induced macrophages
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7 January 2021
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DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK.
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7 January 2021
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Coding joint formation in a cell-free V(D)J recombination system
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses
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Crossref
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7 January 2021
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The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination.
1 reference
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Crossref
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7 January 2021
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Transient restoration of gene rearrangement at multiple T cell receptor loci in gamma-irradiated scid mice
1 reference
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7 January 2021
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inferred from DOI database lookup
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
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Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings
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7 January 2021
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Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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RAG-1-deficient mice have no mature B and T lymphocytes
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Genetic interaction between PARP and DNA-PK in V(D)J recombination and tumorigenesis
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Mutations in the p53 and SCID genes cooperate in tumorigenesis.
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7 January 2021
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Footprint analysis of the RAG protein recombination signal sequence complex for V(D)J type recombination.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
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inferred from DOI database lookup
Requirement for Ku80 in growth and immunoglobulin V(D)J recombination
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
based on heuristic
inferred from DOI database lookup
RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Familial Reticuloendotheliosis with Eosinophilia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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Conservation of sequence in recombination signal sequence spacers
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cell-free V(D)J recombination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic evidence that the RAG1 protein directly participates in V(D)J recombination through substrate recognition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression and V(D)J recombination activity of mutated RAG-1 proteins
1 reference
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
based on heuristic
inferred from DOI database lookup
Definition of a core region of RAG-2 that is functional in V(D)J recombination
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The V(D)J recombination activating gene, RAG-1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG mutations in human B cell-negative SCID.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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inferred from DOI database lookup
Dispensable sequence motifs in the RAG-1 and RAG-2 genes for plasmid V(D)J recombination
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
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inferred from DOI database lookup
Assessment of T-cell receptor beta-chain diversity by heteroduplex analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
based on heuristic
inferred from DOI database lookup
The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination
1 reference
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
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7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic generation of antibody diversity
1 reference
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https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Initiation of V(D)J recombination in a cell-free system.
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
V(D)J recombination: in vitro coding joint formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunoglobulin synthesis and generalized autoimmunity in mice congenitally deficient in αβ(+) T cells
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reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of NK1.1+ T cells in a TH2 response and in immunoglobulin E production
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981448-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0092-8674(00)81448-8
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1404390
OpenCitations bibliographic resource ID
1404390
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1404390
PubMed ID
9630231
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1404390
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