دورية أكاديمية
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
العنوان: | Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 |
---|---|
المؤلفون: | Fellman, Vineta, Banerjee, Rishi, Lin, Kai-Lan, Pulli, Ilari, Cooper, Helen, Tyynismaa, Henna, Kallijärvi, Jukka |
المصدر: | In BBA - Molecular Basis of Disease 1 January 2022 1868(1) |
قاعدة البيانات: | ScienceDirect |
تدمد: | 09254439 |
---|---|
DOI: | 10.1016/j.bbadis.2021.166298 |