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Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.
Okada, Hirofumi; Tada, Hayato; Nomura, Akihiro; Nohara, Atsushi; Okeie, Kazuyasu; Nozue, Tsuyoshi; Michishita, Ichiro; Takamura, Masayuki; Takemura, Hirofumi; Kawashiri, Masa-Aki.
Afiliación
  • Okada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.
  • Tada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.
  • Nomura A; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.
  • Nohara A; Department of Genetics, Ishikawa Prefectural Central Hospital, Japan.
  • Okeie K; Department of Cardiology, Koseiren Takaoka Hospital, Japan.
  • Nozue T; Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Japan.
  • Michishita I; Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Japan.
  • Takamura M; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.
  • Takemura H; Department of Cardiovascular Surgery, Kanazawa University, Japan.
  • Kawashiri MA; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan.
Intern Med ; 61(19): 2883-2889, 2022.
Article en En | MEDLINE | ID: mdl-36184534
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de LDL / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de LDL / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón