Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
外显子组测序发现一个患有心肌病和猝死的家族存在原发性肉碱缺乏症
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2017.22
Lahrouchi, Najim; Lodder, Elisabeth M; Mansouri, Maria; Tadros, Rafik; Zniber, Layla; Adadi, Najlae; Clur, Sally-Ann B; van Spaendonck-Zwarts, Karin Y; Postma, Alex V; Sefiani, Abdelaziz; Ratbi, Ilham; Bezzina, Connie R