Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. Issue 8 (1st August 2002)

Record Type:: Journal Article
Title:: Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. Issue 8 (1st August 2002)
Main Title:: Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
Authors:: Halliday, D J
Hutchinson, S
Lonie, L
Hurst, J A
Firth, H
Handford, P A
Wordsworth, P
Abstract:
Is Part Of:: Journal of medical genetics. Volume 39:Issue 8(2002)
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 8(2002)
Issue Display:: Volume 39, Issue 8 (2002)
Year:: 2002
Volume:: 39
Issue:: 8
Issue Sort Value:: 2002-0039-0008-0000
Page Start:: 589
Page End:: 593
Publication Date:: 2002-08-01
Subjects:: Marfan syndrome -- FBN1 mutation detection -- fibrillin-1 -- DHPLC
MFS, Marfan syndrome -- cbEGF, calcium binding epidermal growth factor -- CSGE, conformation sensitive gel electrophoresis -- DHPLC, denaturing high performance liquid chromatography
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.39.8.589 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 17950.xml