Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. — المؤلف: Bonnin, Edith — PLoS genetics 20190304
- المؤلف
- Bonnin, Edith
- النشر
- PLoS genetics 20190304
- الوصف
- e1007845 p.
- الموضوعات
- Alleles؛ Amino Acid Sequence؛ Animals؛ Animals, Genetically Modified؛ Arthrogryposis؛ Consanguinity؛ Disease Models, Animal؛ Female