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Novel compound heterozygous <scp>FATP</scp> 4 mutations caused ichthyosis prematurity syndrome in Spanish sisters
- Source :
- Acta Paediatrica.
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 16512227 and 08035253
- Database :
- OpenAIRE
- Journal :
- Acta Paediatrica
- Accession number :
- edsair.doi.dedup.....cd8755beb4ab9c89a8ca14897d978456