To confirm that the mutations were pathological, we undertook functional studies. We were able to obtain fresh blood from affected individuals in families 4 and 5. Using a fluorometric assay and ...
'Inheritance through homology' is the most common and generally more accessible approach to function prediction, but orthology should be established where possible to improve confidence in predictions ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results