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