Recombination hotspot in NF1 microdeletion patients

Author

LOPEZ-CORREA, Catalina¹ ; DORSCHNER, Michael² ; FRYNS, Jean-Pierre¹ ; MARYNEN, Peter¹ ; STEPHENS, Karen^{10 2} ; LEGIUS, Eric² ; BREMS, Hilde¹ ; LAZARO, Conxi³ ; CLEMENTI, Maurizio⁴ ; UPADHYAYA, Meena⁵ ; DOOIJES, Dennis⁶ ; MOOG, Ute⁷ ; KEHRER-SAWATZKI, Hildegard⁸ ; RUTKOWSKI, J. Lynn⁹
[1] Center for Human Genetics, Catholic University Leuven, Herestraat 49, 3000 Leuven, Belgium
[2] Department of Medicine, University of Washington, Medical Genetics, Seattle, WA, United States
[3] Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Barcelona, Spain
[4] Servizio di Genetica Medica, Universita di Padova, Padova, Italy
[5] Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
[6] Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, Netherlands
[7] Department of Clinical Genetics, Maastricht University, Maastricht, Netherlands
[8] Department of Human Genetics, University of Ulm, Ulm, Germany
[9] Departments of Neurology and Pediatrics, University of Pennsylvania, Philadelphia, PA, United States
[10] Department of Laboratory Medicine, University of Washington, Seattle, WA, United States

Source

Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392 ; ref : 32 ref

ISSN

0964-6906

Scientific domain

Genetics

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Carte génétique Délétion Etude cas Homme Mutation Neurofibromatose Recklinghausen Point cassure Point chaud Recombinaison Gène NF1 Maladie héréditaire Peau pathologie Phacomatose Système nerveux pathologie Tumeur bénigne

Keyword (en)

Genetic mapping Deletion Case study Human Mutation Neurofibromatosis Recklinghausen Breakpoint Hot spot Recombination Genetic disease Skin disease Phacomatosis Nervous system diseases Benign neoplasm

Keyword (es)

Mapa genético Deleción Estudio caso Hombre Mutación Neurofibromatosis Recklinghausen Punto ruptura Punto caliente Recombinación Enfermedad hereditaria Piel patología Facomatosis Sistema nervioso patología Tumor benigno

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17E Tumors of the nervous system. Phacomatoses

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14086373

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