Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in theFBN1gene-Reference-Cited by-同舟云学术

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in theFBN1gene

Published:2002-03-18 Issue:4 Volume:19 Page:443-456
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Mátyás Gábor,De Paepe Anne,Halliday Dorothy,Boileau Catherine,Pals Gerard,Steinmann Beat

Funder

Telethon

Swiss Marfan Foundation

Stiftung fūr wissenschaftliche Forschung an der Universität Zürich

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Revised genomic organization of FBN1 and significance for regulated gene expression;Biery;Genomics,1999

4. A second locus for Marfan syndrome maps to chromosome 3p24. 2-p25;Collod;Nat Genet,1994

5. Marfan database (third edition): new mutations and new routines for the software;Collod-Beroud;Nucleic Acids Res,1998

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