位置：成果数据库 > 期刊 > 期刊详情页
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita
  • ISSN号：1297-319X
  • 期刊名称：Joint Bone Spine
  • 时间：2014.1
  • 页码：86-89
  • 相关项目：I型并指家系新致病变异的精细定位与鉴定
作者： Zhou, Hao|Qin, Haitao|Guo, Hong|Bai, Yun|
同期刊论文项目
I型并指家系新致病变异的精细定位与鉴定
期刊论文 14
同项目期刊论文
Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern Chi
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syn
Pachyonychia congenita with corneal dystrophy
A Large Novel Deletion Downstream ofPAX6 Gene in a Chinese Family with Ocular Coloboma.
Absence of nasal bone and brachydactyly: a probable new familial syndrome.
A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex
Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar k
Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
Novel and Recurrent Mutations of STK11 Gene in Six Chinese Cases with Peutz-Jeghers Syndrome