Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. [electronic resource]
Producer: 20050920Description: 254-62 p. digitalISSN:- 1526-632X
- Adolescent
- Adult
- Amino Acid Substitution
- Brain -- abnormalities
- Child
- Chromosomes, Human, X -- genetics
- Contractile Proteins -- deficiency
- DNA Mutational Analysis
- Ehlers-Danlos Syndrome -- genetics
- Epilepsy -- etiology
- Exons -- genetics
- Female
- Filamins
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Microfilament Proteins -- deficiency
- Microsatellite Repeats
- Middle Aged
- Mutation, Missense
- Pedigree
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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