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

[1] Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome
Ades, LC
Haan, EA
Colley, AF
Richards, RI
[J]. JOURNAL OF MEDICAL GENETICS, 1996, 33 (08) : 665 - 671
[2] A SUGGESTED NOMENCLATURE FOR DESIGNATING MUTATIONS
BEAUDET, AL
TSUI, LC
[J]. HUMAN MUTATION, 1993, 2 (04) : 245 - 248
[3] INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986
BEIGHTON, P
DEPAEPE, A
DANKS, D
FINIDORI, G
GEDDEDAHL, T
GOODMAN, R
HALL, JG
HOLLISTER, DW
HORTON, W
MCKUSICK, VA
OPITZ, JM
POPE, FM
PYERITZ, RE
RIMOIN, DL
SILLENCE, D
SPRANGER, JW
THOMPSON, E
TSIPOURAS, P
VILJOEN, D
WINSHIP, I
YOUNG, I
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03): : 581 - 594
[4] BOOMS P, 1996, EUR J PEDIATR, V155, P739
[5] CLEARY EG, 1983, INT REV CONNECT TISS, V10, P97
[6] Software and database for the analysis of mutations in the human FBN1 gene
Collod, G
Beroud, C
Soussi, T
Junien, C
Boileau, C
[J]. NUCLEIC ACIDS RESEARCH, 1996, 24 (01) : 137 - 140
[7] Marfan Database (second edition): Software and database for the analysis of mutations in the human FBN1 gene
Collod-Beroud, G
Beroud, C
Ades, L
Black, C
Boxer, M
Brock, DJ
Godfrey, M
Hayward, C
Karttunen, L
Milewicz, D
Peltonen, L
Richards, RI
Wang, M
Junien, C
Boileau, C
[J]. NUCLEIC ACIDS RESEARCH, 1997, 25 (01) : 147 - 150
[8] FIBRILLIN BINDS CALCIUM AND IS CODED BY CDNAS THAT REVEAL A MULTIDOMAIN STRUCTURE AND ALTERNATIVELY SPLICED EXONS AT THE 5' END
CORSON, GM
CHALBERG, SC
DIETZ, HC
CHARBONNEAU, NL
SAKAI, LY
[J]. GENOMICS, 1993, 17 (02) : 476 - 484
[9] DePaepe A, 1996, AM J MED GENET, V62, P417, DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO
[10] 2-R

← 1 2 3 4 5 6 →