A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityIL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation databaseInnate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonellaRevisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.IL12Rβ1: the cytokine receptor that we used to know.Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives.A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.Efficacy and safety of ustekinumab in adolescents.
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P2860
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 09 March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A 475 years-old founder effect ...... eases in European descendants.
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A 475 years-old founder effect ...... eases in European descendants.
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type
label
A 475 years-old founder effect ...... eases in European descendants.
@en
A 475 years-old founder effect ...... eases in European descendants.
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prefLabel
A 475 years-old founder effect ...... eases in European descendants.
@en
A 475 years-old founder effect ...... eases in European descendants.
@nl
P2093
P2860
P1476
A 475 years-old founder effect ...... eases in European descendants.
@en
P2093
A Bernasconi
C Vrátnica
F Haerynck
J Yancoski
L Bezrodnik
M Oleastro
S D Rosenzweig
P2860
P304
P356
10.1016/J.MEEGID.2009.02.010
P577
2009-03-09T00:00:00Z