CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi
Tatsuya
T
Center for Genomic Medicine, RIKEN, Tokyo, Japan.
Dai
Jin
J
Cho
Tae-Joon
TJ
Sakazume
Satoru
S
Ikema
Masahide
M
Matsui
Yoshito
Y
Baynam
Gareth
G
Nagai
Toshiro
T
Miyake
Noriko
N
Matsumoto
Naomichi
N
Ohashi
Hirofumi
H
Unger
Sheila
S
Superti-Furga
Andrea
A
Kim
Ok-Hwa
OH
Nishimura
Gen
G
Ikegawa
Shiro
S
D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D019465:Craniofacial Abnormalities / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D004392:Dwarfism / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007593:Joint Instability / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009708:Nucleotidases / Q000737:chemistry / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D017689:Polydactyly / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D016415:Sequence Alignment
C551404:CANT1 protein, human; D009708:Nucleotidases