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6 results on '"Rocca, Fe"'

3. Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease.

Author

Tarantino P, Annesi F, Scornaienchi V, Rocca FE, De Marco EV, Civitelli D, Provenzano G, Sproviero W, Greco V, and Annesi G

Subjects
Amino Acid Substitution, Base Sequence, Codon genetics, Humans, Mutation, Missense, Protein Deglycase DJ-1, Intracellular Signaling Peptides and Proteins genetics, Oncogene Proteins genetics, Parkinson Disease genetics
Published
2010

4. Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.

Author

Provenzano G, Mannarino E, Annesi F, De Marco EV, Rocca FE, Greco V, Scornaienchi V, Tarantino P, Civitelli D, Quattrone A, Tortorella G, and Annesi G

Subjects
Base Sequence, Case-Control Studies, Codon, DNA Mutational Analysis, Gene Deletion, Humans, Infant, Newborn, Introns, Italy, Molecular Sequence Data, NAV1.1 Voltage-Gated Sodium Channel, Epilepsies, Myoclonic genetics, Mutation, Nerve Tissue Proteins genetics, Nucleotides genetics, Sodium Channels genetics
Published
2009

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