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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Grossi, Alice; Morelli, Federico; Di Duca, Marco; Caroli, Francesco; Moroni, Isabella; Tonduti, Davide; Bachetti, Tiziana; Ceccherini, Isabella.
Afiliação
  • Grossi A; UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Morelli F; UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Di Duca M; Laboratory of Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Caroli F; UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Tonduti D; Unit of Pediatric Neurology - C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
  • Bachetti T; UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ceccherini I; Laboratory of Developmental Neuro-Biology, DISTAV, University of Genoa, Genoa, Italy.
Front Genet ; 12: 744068, 2021.
Article em En | MEDLINE | ID: mdl-34950187
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article