马凡综合征数据库（第二版）：用于分析人类FBN1基因突变的软件和数据库。
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
作者信息
Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock D J, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards R I, Wang M, Junien C, Boileau C
机构信息
INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
出版信息
Nucleic Acids Res. 1997 Jan 1;25(1):147-50. doi: 10.1093/nar/25.1.147.
Abstract
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
摘要
原纤维蛋白是细胞外微原纤维的主要成分。15号染色体上原纤维蛋白基因（FBN1）的突变最初是在遗传性结缔组织疾病马凡综合征（MFS）中被描述的。最近，FBN1也被证明存在与一系列表型上与MFS相关的疾病有关的突变。这些突变是个体特有的，基本上是错义突变，通常不反复出现且广泛分布于整个基因。迄今为止，除了新生儿突变集中在外显子24和32之间这一情况外，尚未观察到明确的基因型/表型关系。马凡综合征计算机数据库的第二个版本包含89条记录。该软件已被修改以适应新的功能和程序。
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