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. |
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| 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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| ISSN: | 1573-2592 |
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| DOI: | 10.1007/s10875-024-01836-0 |
