期刊论文详细信息
| Indian Journal of Medical Research | |
| Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia | |
| 关键词: Alpha thalassaemia - ATRX - exome sequencing - intellectual deficiency - novel mutation - X inactivation; | |
| DOI : 10.4103/0971-5916.178589 | |
| 来源: DOAJ | |
【 授权许可】
Unknown