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Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.

Authors :
Chen XJ
Wu YA
Chen FW
Chen FL
Huang Y
Huang XL
Ma XL
Chen T
Source :
Human genetics [Hum Genet] 2007 Dec; Vol. 122 (5), pp. 548.
Publication Year :
2007

Subjects

Subjects :
Fibrillin-1
Fibrillins
Humans
Introns
RNA Splicing genetics
Marfan Syndrome genetics
Microfilament Proteins genetics
Mutation, Missense

Details

Language :
English
ISSN :
1432-1203
Volume :
122
Issue :
5
Database :
MEDLINE
Journal :
Human genetics
Publication Type :
Academic Journal
Accession number :
18380029

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