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Journal articles
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Gwenaëlle Collod-Béroud
1
Christophe Béroud
1
Lesley Adès
2
Cheryl Black
3
Maureen Boxer
3
David Brock
4
Maurice Godfrey
5
Carolyne Hayward
4
Leena Karttunen
6
Dianna Milewicz
7
Leena Peltonen
6
Robert Richards
8
Mei Wang
5
Claudine Junien
1, 9
Catherine Boileau
1, 9
Gwenaëlle Collod-Béroud 1
Author IdHAL : gwenaelle-collod-beroud ResearcherId : http://www.researcherid.com/rid/A-8342-2008 ORCID : https://orcid.org/0000-0003-4098-6161
Christophe Béroud 1
Author IdHAL : christophe-beroud ResearcherId : http://www.researcherid.com/rid/A-8381-2008
Lesley C. Adès 2
Author
Cheryl Black 3
Author
Leena Karttunen 6
Author
Dianna M. Milewicz 7
Author
Leena Peltonen 6
Author
Robert I. Richards 8
Author
1
Génétique, chromosome et cancer (Gh Necker - Enfants Malades 149, Rue de Sevres 75743 PARIS CEDEX 15 - France)
- UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U383 (101, rue de Tolbiac, 75013 Paris - France)
2
Department of Medical Genetics (Parramata 2124, Sydney, Australia - Australia)
- The New Children's Hospital (France)
3
Molecular Genetics Laboratory, Department of Pathology (Dundee DD1 9SY, UK - France)
- Ninewells Hospital and Medical School [Dundee] (Dundee Scotland, UK DD1 9SY - United Kingdom)
4
Human Genetics Unit, Department of Medicine, (Edinburgh EH4 2XU, UK - United Kingdom)
- University of Edinburgh (Old College South Bridge Edinburgh EH8 9YL - United Kingdom)
5
Department of Pediatrics, (Medical Center, Ohama, NE 68198, USA - France)
- University of Nebraska Medical Center ( Omaha, NE 68198, États-Unis - United States)
- University of Nebraska System (NE, US - United States)
6
Department of Human Molecular Genetics, (FIN-00300 Helsinki, Finland - France)
- National Public Health Institute, (France)
7
Department of Internal Medicine, (Houston, TX 77030, USA - France)
8
Department of Medical Genetics, (North Adelaide, SA 5006, Australia - Australia)
- Women's and Children's Hospital (France)
9
Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré] (9, avenue Charles-de-Gaulle 92100 Boulogne-Billancourt - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Ambroise Paré [AP-HP] (9, avenue Charles de Gaulle92104 Boulogne-Billancourt cedex - France)
Abstract : Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
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Journal articles
Complete list of metadatas
https://www.hal.inserm.fr/inserm-00143175
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Tuesday, April 24, 2007 - 3:31:09 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:44 AM
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Tuesday, April 24, 2007 - 3:31:09 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:44 AM
Identifiers
- HAL Id : inserm-00143175, version 1
- PUBMED : 9016526
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Citation
Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Adès, Cheryl Black, Maureen Boxer, et al.. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.. Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.147-50. ⟨inserm-00143175⟩
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