Uncommon FBN1 mutation in Marfan syndrome family with severe ectopia lentis

被引：0

作者：

Manning, M

Hyland, J

Kwan, A

Liang, D

Hudgins, L

机构：

[1] Stanford Univ, Stanford, CA 94305 USA

[2] Tulane Univ, Hlth Sci Ctr, New Orleans, LA 70118 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

724

引用

页码：293 / 293

页数：1

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[43] FBN1 mutation screening of patients with Marfan syndrome and related disorders:: detection of 46 novel FBN1 mutations [J].

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[45] Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus [J].

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[46] Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome [J].

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[47] A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome [J].

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[48] The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus [J].

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[49] Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg [J].

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[50] C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family [J].

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