A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda
TRAPPC2基因中一种新的提前终止密码子突变与X连锁脊椎骨骺发育不良迟发症相关
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000543039
Yasar, Deniz; Güleray Lafcı, Naz; Karacan Küçükali, Gülin; Araslı Yılmaz, Aslıhan; Özkaya Dönmez, Beyhan; Yazar, Burak Tahir; Uçan, Berna; Okur, İclal; Sarıkaya Özdemir, Behiye; Kurnaz, Erdal; Keskin, Melikşah; Savaş Erdeve, Şenay