Molecular biology of Marfan syndrome.
作者信息
Dietz H C
出版信息
J Vasc Surg. 1992 May;15(5):927-8. doi: 10.1016/0741-5214(92)90755-w.
PMID:1578571
Abstract
摘要
相似文献
1
Molecular biology of Marfan syndrome.
J Vasc Surg. 1992 May;15(5):927-8. doi: 10.1016/0741-5214(92)90755-w.
2
A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
J Perinatol. 2008 Apr;28(4):303-5. doi: 10.1038/sj.jp.7211915.
3
Marfan syndrome in South Africa: a molecular genetic approach to diagnosis.
S Afr Med J. 2007 Sep;97(9):845-7.
4
The Marfan syndrome is caused by a point mutation in the fibrillin gene.
Arch Ophthalmol. 1992 Apr;110(4):472-3. doi: 10.1001/archopht.1992.01080160050027.
5
[Marfan syndrome. Current molecular data].
Arch Fr Pediatr. 1992 Dec;49(10):941-3.
6
Marfan gene discovered.
Ann Med. 1991 Oct;23(4):395-6. doi: 10.3109/07853899109148080.
7
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
Hum Mutat. 1997;9(4):359-62. doi: 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1.
8
The defect in Marfan syndrome.
Nature. 1991 Jul 25;352(6333):279-81. doi: 10.1038/352279a0.
9
Fibrillin (FBN1) mutations in Marfan syndrome.
Hum Mutat. 1992;1(1):79. doi: 10.1002/humu.1380010115.
10
Marfan gene dissected.
Nat Genet. 1993 Feb;3(2):99-100. doi: 10.1038/ng0293-99.
Zotero 插件