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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6.
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PubMed
subject areas
Abnormalities, Multiple
Brain Diseases
Cell Movement
Cerebral Ventricles
Child, Preschool
Choristoma
Chromosomes, Human, X
Cisterna Magna
Contractile Proteins
DNA Mutational Analysis
Dosage Compensation, Genetic
Female
Filamins
Genes, Lethal
Genetic Diseases, X-Linked
Germ-Line Mutation
Hair Follicle
Humans
Infant, Newborn
Introns
Male
Microfilament Proteins
Middle Aged
Mosaicism
Mutation, Missense
Neurons
Pedigree
Phenotype
Point Mutation
RNA Splice Sites
Sequence Deletion
authors with profiles
William B. Dobyns