Skip to content
VuFind
English
Deutsch
Español
Français
Italiano
日本語
Nederlands
Português
Português (Brasil)
中文(简体)
中文(繁體)
Türkçe
עברית
Gaeilge
Cymraeg
Ελληνικά
Català
Euskara
Русский
Čeština
Suomi
Svenska
polski
Dansk
slovenščina
اللغة العربية
বাংলা
Galego
Tiếng Việt
Hrvatski
हिंदी
Հայերէն
Українська
Sámegiella
Монгол
Language
All Fields
Title
Author
Subject
Call Number
ISBN/ISSN
Tag
Find
Advanced
MLPA-based point mutation anal...
Cite this
Text this
Email this
Print
Export Record
Export to RefWorks
Export to EndNoteWeb
Export to EndNote
Permanent link
MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
Bibliographic Details
Main Authors:
Bunyan, D
,
Brown, T
,
Wycherley, R
,
Score, J
,
Harvey, J
,
Cross, N
Format:
Conference item
Published:
2004
Holdings
Description
Similar Items
Staff View
Similar Items
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
by: Halliday, D, et al.
Published: (2002)
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
by: Bunyan, D, et al.
Published: (2007)
Familial spontaneous pneumothorax is not linked to FBN-1, the defective gene in the Marfan syndrome.
by: Maskell, N, et al.
Published: (2000)
A new approach for the identification of common point mutations within the dystrophin gene using MLPA
by: Skinner, A, et al.
Published: (2005)
Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
by: Hutchinson, S, et al.
Published: (2001)