Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing.

Ito, Kaoru; Patel, Parth N; Gorham, Joshua M; McDonough, Barbara; DePalma, Steven R; Adler, Emily E; Lam, Lien; MacRae, Calum A; Mohiuddin, Syed M; Fatkin, Diane; Seidman, Christine E; Seidman, J G

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

Ito, Kaoru; Patel, Parth N; Gorham, Joshua M; McDonough, Barbara; DePalma, Steven R; Adler, Emily E; Lam, Lien; MacRae, Calum A; Mohiuddin, Syed M; Fatkin, Diane; Seidman, Christine E; Seidman, J G.

Afiliação

Ito K; Department of Genetics, Harvard Medical School, Boston, MA 02115.
Patel PN; Department of Genetics, Harvard Medical School, Boston, MA 02115.
Gorham JM; Department of Genetics, Harvard Medical School, Boston, MA 02115.
McDonough B; Department of Genetics, Harvard Medical School, Boston, MA 02115.
DePalma SR; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115.
Adler EE; Department of Genetics, Harvard Medical School, Boston, MA 02115.
Lam L; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115.
MacRae CA; Department of Genetics, Harvard Medical School, Boston, MA 02115.
Mohiuddin SM; Department of Genetics, Harvard Medical School, Boston, MA 02115.
Fatkin D; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA 02115.
Seidman CE; Department of Internal Medicine, Creighton University Medical Center, Omaha, NE 68131.
Seidman JG; Faculty of Medicine, University of New South Wales, Kensington, NSW 2052, Australia.

Proc Natl Acad Sci U S A ; 114(29): 7689-7694, 2017 07 18.

Article em En | MEDLINE | ID: mdl-28679633

Assuntos

Proteínas de Transporte/genética; Lamina Tipo A/genética; Mutação; Splicing de RNA; Adulto; Idoso; Alelos; Cardiomiopatias/genética; Biologia Computacional; Feminino; Variação Genética; Genótipo; Células HEK293; Haploinsuficiência; Cardiopatias/genética; Transplante de Coração; Humanos; Masculino; Pessoa de Meia-Idade; Mutação de Sentido Incorreto; Marca-Passo Artificial; Linhagem; Sítios de Splice de RNA; Análise de Sequência de DNA; Adulto Jovem

Palavras-chave

LMNA; MYBPC3; VUS; cardiomyopathy; splicing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Splicing de RNA / Lamina Tipo A / Mutação Tipo de estudo: Diagnostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2017 Tipo de documento: Article

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