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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008 Jun; 40(6):776-81.
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PubMed
subject areas
Animals
Brain
Cadherins
Case-Control Studies
Chromosomes, Human, X
Codon, Nonsense
Cognition Disorders
Epilepsy
Female
Fibroblasts
Gene Expression Regulation, Developmental
Genes, X-Linked
Genomic Imprinting
Humans
In Situ Hybridization
Male
Mice
Mutation, Missense
Pedigree
Phenotype
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger
Skin