| 摘要 |
PROBLEM TO BE SOLVED: To provide a new gene that is considered to play an essential role upon diagnosing/treating a related disease exhibiting a symptom similar to Marfan syndrome. SOLUTION: This gene encodes (a) a protein consisting of an amino acid sequence (substantially) identical to a specific amino acid sequence derived from human or (b) a protein that consists of an amino acid sequence modified by deleting, substituting or adding a part of amino acids from, in or to the amino acid sequence, and has a biological activity substantially the same as human fibrillin 3 protein, human fibrillin 2 protein or human fibrillin 1 protein. The other objective protein is recombinant human fibrillin 3 protein encoded by the above gene. |
