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Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

Prando, C; Boisson-Dupuis, S; Grant, AV; Kong, X-F; Bustamante, J; Feinberg, J; Chapgier, A; ... Casanova, J-L; + view all (2010) Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency. AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 152A (3) pp. 622-629. 10.1002/ajmg.a.33291.

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Type: Article
Title: Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency
DOI: 10.1002/ajmg.a.33291
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Mycobacterium, uniparental disomy, IFN-gamma, NEONATAL DIABETES-MELLITUS, STEM-CELL TRANSPLANTATION, CALMETTE-GUERIN INFECTION, RHODOCOCCUS-EQUI, MYCOBACTERIAL INFECTIONS, IFN-GAMMA-R1 DEFICIENCY, CLINICAL-FEATURES, MEDIATED IMMUNITY, IMPRINTED GENES, TRANSIENT
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/1356231
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