(Q84100098)
Statements
A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome (English)
Hiroshi Okita
Yasunori Ikeda
Yoshihiko Mitsuhashi
Hiromi Namikawa
Yohei Kitamura
Yoichiro Hamasaki
Soji Yamazaki
Atsushi Hatamochi