Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

European Journal of Human Genetics - Tập 9 Số 4 - Trang 260-266 - 2001
Laurence Cuisset1, Joost P.H. Drenth2, Anna Simon3, Marie Françoise Vincent4, Saskia van der Velde Visser5, J W van der Meer3, Gilles Grateau6, Marc Delpech1
1Génétique et physiopathologie des maladies inflammatoires héréditaires, Institut Cochin de Génétique Moléculaire and Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
2Department of Medicine, Division of Gastroenterology, University Medical Center St. Radboud, Nijmegen, The Netherlands
3Division of General Internal Medicine University Medical Center St. Radboud, Nijmegen, The Netherlands
4Laboratoire des Maladies Métaboliques, Brussels, Belgium
5Department of Human Genetics, University Medical Center St. Radboud, Nijmegen, The Netherlands
6Service de Médecine Interne, L'Hôtel-Dieu (AP-HP), Paris, France

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European Journal of Human Genetics

Tập 9 Số 4

260-266

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