Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. [electronic resource]
Producer: 20041221Description: 51-6 p. digitalISSN:- 1526-632X
- Abnormalities, Multiple -- genetics
- Brain Diseases -- genetics
- Cell Movement -- genetics
- Cerebral Ventricles -- abnormalities
- Child, Preschool
- Choristoma -- genetics
- Chromosomes, Human, X -- genetics
- Cisterna Magna -- abnormalities
- Contractile Proteins -- deficiency
- DNA Mutational Analysis
- Dosage Compensation, Genetic
- Female
- Filamins
- Genes, Lethal
- Genetic Diseases, X-Linked -- diagnosis
- Germ-Line Mutation
- Hair Follicle -- chemistry
- Humans
- Infant, Newborn
- Introns -- genetics
- Male
- Microfilament Proteins -- deficiency
- Middle Aged
- Mosaicism
- Mutation, Missense
- Neurons -- pathology
- Pedigree
- Phenotype
- Point Mutation
- RNA Splice Sites -- genetics
- Sequence Deletion
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.