149 research outputs found
BRIF and Variant Databases
No full textDatabases of sequence variation in human genes (LSDBs) are an important resource for biology and medicine. Currently, the measurement of importance is not as objective as it might be and the establishment of impact factors would be of benefit to those who curate LSDBs. Specific issues relating to such databases are discussed
Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene
No full textThe Human Collagen Mutation Database 1998
No full textThecollagens are a large anddiverse family of proteins which are found in the extracellular matrix. In common with one another, the 19 known collagen types have triple-helical domains of variable length but they differ with respect to their overall size and the nature and location of their globular domains. Collagen mutations lead to heritable defects of connective tissues and mutation data for collagen types I and III are presented here. The mutation data are accessible on the world wide web at http://www.le.ac.uk/genetics/collagen/ INTRODUCTION The collagens are a complex family of structural proteins comprising at least 19 types (1,2). Some types are abundant and ubiquitous though the majority are minor components with limited tissue distribution and are specialised in their functions. Mutations in the genes encoding the individual collagen a-chains often lead to defects of the extracellular matrix. These mutations are generally dominant and data exist for most of the more abundan..
Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation.
No full textBoning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation
- …
