Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism. [electronic resource]
Producer: 20191114Description: 590-591 p. digitalISSN:- 1399-0004
- Alleles
- Amino Acid Substitution
- Biomarkers
- Chromosome Deletion
- Chromosome Disorders -- diagnosis
- Chromosome Mapping
- Chromosomes, Human, Pair 22 -- genetics
- Genetic Association Studies -- methods
- Genetic Predisposition to Disease
- Genotype
- Humans
- Lipase -- genetics
- Male
- Membrane Proteins -- genetics
- Phenotype
- Polymorphism, Genetic
- Young Adult
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Publication Type: Case Reports; Letter
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