A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree

Autor: Xia, Xin-Yi, Cui, Ying-Xia, Zhou, Yu-Chun, Zhou, Xin, Shi, Yi-Chao, Wei, Li, Li, Xiao-Jun, Huang, Yu-Feng, Huang, Ting-Ting
Zdroj: In Clinica Chimica Acta 2009 410(1):39-42
Databáze: ScienceDirect