用于分析人类FBN1基因突变的软件和数据库。
Software and database for the analysis of mutations in the human FBN1 gene.
作者信息
Collod G, Béroud C, Soussi T, Junien C, Boileau C
机构信息
INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.
出版信息
Nucleic Acids Res. 1996 Jan 1;24(1):137-40. doi: 10.1093/nar/24.1.137.
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 and many mutations will have to be accumulated before genotype/phenotype relationships emerge. To facilitate mutational analysis of the FBN1 gene, a software package along with a computerized database (currently listing 63 entries) have been created.
摘要
原纤维蛋白是细胞外微原纤维的主要成分。15号染色体上的原纤维蛋白基因（FBN1）突变最初在遗传性结缔组织疾病马方综合征（MFS）中被描述。最近，FBN1也被证明存在与一系列表型与MFS相关的疾病相关的突变，并且在基因型/表型关系出现之前还需要积累许多突变。为便于对FBN1基因进行突变分析，已创建了一个软件包和一个计算机化数据库（目前列出63个条目）。
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本文引用的文献
1
Fall accident patterns: characterization of most frequent work surface-related injuries.跌倒事故模式：最常见的与工作表面相关伤害的特征描述。
Prof Saf. 1982 Jun;27(6):16-22.
2
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Hum Mol Genet. 1993 Apr;2(4):475-7. doi: 10.1093/hmg/2.4.475.
3
The skipping of constitutive exons in vivo induced by nonsense mutations.无义突变在体内诱导组成型外显子跳跃。
Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317.
4
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.四种新的FBN1突变：对马凡综合征发病机制中突变转录本水平和EGF样结构域钙结合的意义
Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349.
5
A suggested nomenclature for designating mutations.一种用于指定突变的建议命名法。
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Biochemical genetics: examples of life after cloning.
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