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Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

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Title: Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Authors: Zhen X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Betti MJ; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Kars ME; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Patterson AR; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA., Medina-Torres EA; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Scheffler Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Herrera Sánchez DA; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico., Lopez-Herrera G; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Svyryd Y; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Gamazon ER; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Rathmell JC; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Markle J; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA., O'Farrill Romanillos P; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico., Lugo-Reyes SO; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico. dr.lugo.reyes@gmail.com., Martinez-Barricarte R; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Center for Immunobiology, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA. ruben.m.barricarte@vumc.org.
Source: Journal of clinical immunology [J Clin Immunol] 2024 Dec 04; Vol. 45 (1), pp. 53. Date of Electronic Publication: 2024 Dec 04.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Zhen+X%22">Zhen X</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Betti+MJ%22">Betti MJ</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kars+ME%22">Kars ME</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+AR%22">Patterson AR</searchLink>; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Medina-Torres+EA%22">Medina-Torres EA</searchLink>; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Scheffler+Mendoza+SC%22">Scheffler Mendoza SC</searchLink>; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Herrera+Sánchez+DA%22">Herrera Sánchez DA</searchLink>; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Lopez-Herrera+G%22">Lopez-Herrera G</searchLink>; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Svyryd+Y%22">Svyryd Y</searchLink>; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Mutchinick+OM%22">Mutchinick OM</searchLink>; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Gamazon+ER%22">Gamazon ER</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Rathmell+JC%22">Rathmell JC</searchLink>; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Itan+Y%22">Itan Y</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Markle+J%22">Markle J</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22O'Farrill+Romanillos+P%22">O'Farrill Romanillos P</searchLink>; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Lugo-Reyes+SO%22">Lugo-Reyes SO</searchLink>; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico. dr.lugo.reyes@gmail.com.<br /><searchLink fieldCode="AU" term="%22Martinez-Barricarte+R%22">Martinez-Barricarte R</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Center for Immunobiology, Nashville, TN, USA. ruben.m.barricarte@vumc.org.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA. ruben.m.barricarte@vumc.org.
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  Data: <searchLink fieldCode="JN" term="%228102137%22">Journal of clinical immunology</searchLink> [J Clin Immunol] 2024 Dec 04; Vol. 45 (1), pp. 53. <i>Date of Electronic Publication: </i>2024 Dec 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>8102137 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2592 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202719142%22">02719142 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Immunol <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10875-024-01836-0
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