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
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