Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Author

RUTSCH, Frank^{1 2} ; RUF, Nico³ ; EPPLEN, Jörg T⁸ ; KNISELY, Alex⁹ ; SUPERTI-FURGA, Andrea¹⁰ ; MCGILL, James¹¹ ; FILIPPONE, Marco¹² ; SINAIKO, Alan R¹³ ; VALLANCE, Hillary¹⁴ ; HINRICHS, Bernd¹⁵ ; SMITH, Wendy¹⁶ ; FERRE, Merry¹⁷ ; VAINGANKAR, Sucheta¹ ; TERKELTAUB, Robert¹ ; NÜRNBERG, Peter^{2 3} ; TOLIAT, Mohammad R³ ; SUK, Anita^{2 3} ; HÖHNE, Wolfgang⁴ ; SCHAUER, Galen⁵ ; LEHMANN, Mandy^{1 3} ; ROSCIOLI, Tony⁶ ; SCHNABEL, Dirk⁷
[1] Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, United States
[2] Institute of Medical Genetics, Charité University Hospital, Humboldt University, Berlin, Germany
[3] Gene Mapping Center, Max Delbrück Center for Molecular Medicine, Berlin-Buch, Germany
[4] Institute of Biochemistry, Charité University Hospital, Humboldt University, Berlin, Germany
[5] Department of Pathology, Children's Hospital and Clinics, Minneapolis, Minnesota, United States
[6] Department of Clinical and Molecular Genetics, Royal Prince Alfred Hospital, Sydney, Australia
[7] Department of Pediatrics, Charité University Hospital, Humboldt University, Berlin, Germany
[8] Department of Human Genetics, Ruhr-University, Bochum, Germany
[9] Institute of Liver Studies, King's College Hospital, London, United Kingdom
[10] Division of Metabolic and Molecular Diseases, University Children's Hospital, Zurich, Switzerland
[11] Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Australia
[12] Department of Pediatrics, University of Padova Medical School, Padova, Italy
[13] Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, United States
[14] Biochemical Diseases Laboratory, Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, Vancouver, Canada
[15] Department of Neonatology, Eppendorf University Hospital, Hamburg, Germany
[16] Division of Genetics, Barbara Bush Children's Hospital, Maine Medical Center, Portland, Oregon, United States
[17] Prenatal Diagnostic Center, Roanoke, Virginia, United States

Source

Nature genetics. 2003, Vol 34, Num 4, pp 379-381, 3 p ; ref : 15 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Calcification Idiopathique Mutation

Keyword (en)

Calcification Idiopathic Mutation

Keyword (es)

Calcificación Idiopático Mutación

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04F Cell structures and functions / 002A04F09 Lysosome, phagosome

Discipline

Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

15048556

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