Marfan Database (third edition):: new mutations and new routines for the software

被引：91

作者：

Collod-Béroud, G

Béroud, C

Ades, L

Black, C

Boxer, M

Brocks, DJH

Holman, KJ

de Paepe, A

Francke, U

Grau, U

Hayward, C

Klein, HG

Liu, WG

Nuytinck, L

Peltonen, L

Perez, ABA

Rantamäki, T

Junien, C

Boileau, C

机构：

[1] Univ Paris 05, Hop Necker Enfants Malad, Clin Maurice Lamy, INSERM,U383, F-75743 Paris 15, France

[2] CHU Cochin Port Royal, Inst Cochin Genet Mol, F-75014 Paris, France

[3] Hop Broussais, F-75014 Paris, France

[4] Royal Alexandra Hosp Children New, Dept Med Genet, Sydney, NSW 2124, Australia

[5] Royal Alexandra Hosp Children New, Dept Paediat & Child Hlth, Sydney, NSW 2124, Australia

[6] Univ Dundee, Ninewells Hosp & Med Sch, Dept Mol & Cellular Pathol, Mol Genet Lab, Dundee DD1 9SY, Scotland

[7] Inst Child Hlth, Unit Clin Genet & Fetal Med, N Thames E Clin Mol Genet Lab, London, England

[8] Univ Edinburgh, Western Gen Hosp, Mol Med Ctr, Dept Med,Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[9] St George Hosp, Sch Med, London SW17 0RE, England

[10] Stanford Univ, Med Ctr, Howard Hughes Med Inst, Stanford, CA 94305 USA

[11] Univ Munich, Klinikm GroBhadern, Dept Cardiovasc Surg, D-81366 Munich, Germany

[12] Univ Munich, Klinikm GroBhadern, Inst Clin Chem, D-81366 Munich, Germany

[13] State Univ Ghent Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

[14] Natl Publ Hlth Inst, Dept Human Mol Genet, FIN-00300 Helsinki, Finland

[15] UNIFESP, EPM, BR-04101000 Sao Paulo, Brazil

[16] Hop Ambroise Pare, Lab Cent Biochim Hormonol & Genet Mol, F-92104 Boulogne, France

[17] Stanford Univ, Med Ctr, Dept Genet, Stanford, CA 94305 USA

来源：

NUCLEIC ACIDS RESEARCH | 1998年 / 26卷 / 01期

基金：

巴西圣保罗研究基金会;

关键词：

D O I：

10.1093/nar/26.1.229

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr.

引用

页码：229 / 233

页数：5

共 57 条

[11] Dietz Harry C., 1992, Human Mutation, V1, P366, DOI 10.1002/humu.1380010504
[12] THE SKIPPING OF CONSTITUTIVE EXONS INVIVO INDUCED BY NONSENSE MUTATIONS
DIETZ, HC
VALLE, D
FRANCOMANO, CA
KENDZIOR, RJ
PYERITZ, RE
CUTTING, GR
[J]. SCIENCE, 1993, 259 (5095) : 680 - 683
[13] MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE
DIETZ, HC
PYERITZ, RE
PUFFENBERGER, EG
KENDZIOR, RJ
CORSON, GM
MASLEN, CL
SAKAI, LY
FRANCOMANO, CA
CUTTING, GR
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (05) : 1674 - 1680
[14] 4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL AND EGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME
DIETZ, HC
MCINTOSH, I
SAKAI, LY
CORSON, GM
CHALBERG, SC
PYERITZ, RE
FRANCOMANO, CA
[J]. GENOMICS, 1993, 17 (02) : 468 - 475
[15] MARFAN-SYNDROME CAUSED BY A RECURRENT DENOVO MISSENSE MUTATION IN THE FIBRILLIN GENE
DIETZ, HC
CUTTING, GR
PYERITZ, RE
MASLEN, CL
SAKAI, LY
CORSON, GM
PUFFENBERGER, EG
HAMOSH, A
NANTHAKUMAR, EJ
CURRISTIN, SM
STETTEN, G
MEYERS, DA
FRANCOMANO, CA
[J]. NATURE, 1991, 352 (6333) : 337 - 339
[16] GODFREY M, 1993, AM J HUM GENET, V53, P472
[17] Grau U., 1996, EUR J PEDIATR, V155, P739
[18] GROSSFIELD, 1993, AM J HUM GENET, V53
[19] Hay E. D., 1991, CELL BIOL EXTRACELLU, P79
[20] IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES
HAYWARD, C
PORTEOUS, MEM
BROCK, DJH
[J]. HUMAN MUTATION, 1994, 3 (02) : 159 - 162

← 1 2 3 4 5 6 →