How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency

被引：7

作者：

Bernardi, F

Marchetti, G

Dolce, A

Mariani, G

机构：

[1] Univ Ferrara, Dept Biochem & Mol Biol, I-44100 Ferrara, Italy

[2] Natl Inst Stat, Rome, Italy

[3] Univ Aquila, Dept Internal Med & Publ Hlth, Laquila, Italy

来源：

HAEMOPHILIA | 2004年 / 10卷

关键词：

coagulation disorder; haemophilia; haemostatic balance; heterogeneous mutational spectrum; phenotypic diversity; phenotype-genotype relationship;

D O I：

10.1111/j.1365-2516.2004.00989.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The study of the molecular pathogenesis of several single-gene disorders, such as coagulation-factor deficiencies, has revealed the variability of phenotypic expression, even of the same mutations in single genes. These studies underline the complexity of research dealing with the definition of the molecular bases of disorders. Sequence variations provide only the starting point to define pathological genotype-phenotype relationships.

引用

页码：177 / 179

页数：3

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