Novel compound heterozygous FATP 4 mutations caused ichthyosis prematurity syndrome in Spanish sisters
Autor: | Laura Rodríguez-Pazos, Uxia Esperón-Moldes, Manuel Ginarte, Ana Vega, Marta Santamariña, Belinda Rodríguez-Lage |
---|---|
Rok vydání: | 2018 |
Předmět: |
Adult
0301 basic medicine Genetics Heterozygote business.industry Ichthyosis Heterozygote advantage Infant Premature Diseases General Medicine Fatty Acid Transport Proteins medicine.disease Compound heterozygosity Pedigree 03 medical and health sciences 030104 developmental biology Spain Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Humans Medicine Female Ichthyosis prematurity syndrome business |
Zdroj: | Acta Paediatrica. |
ISSN: | 1651-2227 0803-5253 |
Databáze: | OpenAIRE |
Externí odkaz: |