Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. [electronic resource]
Producer: 20091207Description: 363-9 p. digitalISSN:- 1364-6753
- Abnormalities, Multiple -- genetics
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Comparative Genomic Hybridization
- DNA Mutational Analysis
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Molecular Sequence Data
- Phenotype
- Protein Serine-Threonine Kinases -- genetics
- Rett Syndrome -- genetics
- Seizures -- genetics
- Sequence Deletion
- X Chromosome Inactivation
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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