Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. [electronic resource]
Producer: 20010405Description: 13-21 p. digitalISSN:- 1018-4813
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA -- chemistry
- DNA Mutational Analysis
- Exons -- genetics
- Family Health
- Female
- Fibrillin-1
- Fibrillins
- Genotype
- Humans
- Infant, Newborn
- Male
- Marfan Syndrome -- genetics
- Microfilament Proteins -- genetics
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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