CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.


Autoria(s): Furuichi T.; Dai J.; Cho T.J.; Sakazume S.; Ikema M.; Matsui Y.; Baynam G.; Nagai T.; Miyake N.; Matsumoto N.; Ohashi H.; Unger S.; Superti-Furga A.; Kim O.H.; Nishimura G.; Ikegawa S.
Data(s)

2011

Identificador

https://serval.unil.ch/?id=serval:BIB_CF22BCC2EDC8

isbn:1468-6244[electronic], 0022-2593[linking]

pmid:21037275

doi:10.1136/jmg.2010.080226

isiid:000285383600005

Idioma(s)

en

Fonte

Journal of Medical Genetics, vol. 48, no. 1, pp. 32-37

Tipo

info:eu-repo/semantics/article

article