دورية أكاديمية
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
العنوان: | A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings |
---|---|
المؤلفون: | Li, Zejuan, Schonberg, RhondaAff2, Aff3, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, JosephAff3, Aff5, Summar, Marshall LAff2, Aff3, Vezina, GilbertAff3, Aff6, Das, Soma, Chapman, KimberlyAff2, Aff3, del Gaudio, DanielaAff1 |
المصدر: | Journal of Human Genetics. 60(7):363-369 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 14345161 1435232X |
---|---|
DOI: | 10.1038/jhg.2015.31 |