Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Author

XU, G.-L¹ ; BESTOR, T. H¹ ; BOURC'HIS, D² ; HSIEH, C.-L³ ; TOMMERUP, N⁴ ; BUGGE, M⁴ ; HULTEN, M⁵ ; XIAOYAN QU⁶ ; RUSSO, J. J⁶ ; VTEGAS-PEQUIGNOT, E²
[1] Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York 10032, United States
[2] INSERM U383, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France
[3] Department of Urology, and Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, 1441 Eastlake Avenue, Los Angeles, California 90033, United States
[4] Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Glostrup 2600, Denmark
[5] Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, United Kingdom
[6] Columbia Genome Center, College of Physicians and Surgeons of Columbia University, New York 10032, United States

Source

Nature (London). 1999, Vol 402, Num 6758, pp 187-191 ; ref : 29 ref

CODEN

NATUAS

ISSN

0028-0836

Scientific domain

Multidisciplinary

Publisher

Nature Publishing, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Aberration chromosomique Chromosome DNA (cytosine-5-)-methyltransferase Expression génique Homme Hétérochromatine Immunodéficit Instabilité Mutation Méthylation Organisation gène DNA methyltransferase Gène DNMT3B ICF syndrome Enzyme Immunopathologie Maladie héréditaire Methyltransferases Syndrome complexe Transferases

Keyword (en)

Chromosomal aberration Chromosome DNA (cytosine-5-)-methyltransferase Gene expression Human Heterochromatin Immune deficiency Instability Mutation Methylation Gene organization ICF syndrome Enzyme Immunopathology Genetic disease Methyltransferases Complex syndrome Transferases

Keyword (es)

Aberración cromosómica Cromosoma DNA (cytosine-5-)-methyltransferase Expresión genética Hombre Heterocromatina Inmunodeficiencia Inestabilidad Mutación Metilación Organización gene Enzima Inmunopatología Enfermedad hereditaria Methyltransferases Síndrome complejo Transferases

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

1179401

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS