A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations. — المؤلف: Montalván-Suárez, Martha — Molecular genetics & genomic medicine 20190625
- المؤلف
- Montalván-Suárez, Martha
- النشر
- Molecular genetics & genomic medicine 20190625
- الوصف
- e608 p.
- الموضوعات
- ATP-Binding Cassette Transporters؛ Child, Preschool؛ Codon, Nonsense؛ Humans؛ Ichthyosis, Lamellar؛ Loss of Function Mutation؛ Male؛ Mutation, Missense