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Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome

DANESINO, CESARE
2015-01-01
2015
Medical Research, General Topics covers a wide array of topics in medical and biomedical research, with a specific emphasis on human disease, human tissues, and all levels of research into the pathogenesis of clinically significant conditions. Specific medical fields that are characterized by the inclusion of material from several other specializations are also covered here; these include general and internal medicine, tropical medicine, pediatrics, gerontology, epidemiology, and public health. Resources dealing with specific clinical interventions are excluded and are placed in the Medical Research: Diagnosis & Treatment category. Resources that emphasize the specific disease types, or specific systems affected are also excluded and are categorized according to the pathogen or system pathophysiology.
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
sì
2-s2.0-84927762725
Esperti anonimi
Inglese
Internazionale
STAMPA
167
5
1165
1167
3
25885068
Child; Epilepsies, Myoclonic; Female; Humans; Male; NAV1.1 Voltage-Gated Sodium Channel; Siblings; Mosaicism; Genetics; Genetics (clinical)
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833
no
5
info:eu-repo/semantics/article
262
Guala, Andrea; Peruzzi, Cinzia; Gennaro, Elena; Pennese, Loredana; Danesino, Cesare
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1180923
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