Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. [electronic resource]
Producer: 20160224Description: 405-12 p. digitalISSN:- 1468-6244
- Base Sequence
- Bone and Bones -- diagnostic imaging
- Brain -- pathology
- Computational Biology
- DNA Mutational Analysis
- Epilepsy -- genetics
- Exons
- Female
- Filamins -- chemistry
- Genes, X-Linked
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Humans
- Lymphocytes -- metabolism
- Magnetic Resonance Imaging
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Nonsense Mediated mRNA Decay
- Osteochondrodysplasias -- diagnosis
- Pedigree
- Periventricular Nodular Heterotopia -- diagnosis
- RNA Splicing
- Radiography
- Sequence Alignment
- Syndrome
- X Chromosome Inactivation
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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