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Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
Takahashi, Manabu; Ozaki, Nobuaki; Nagashima, Shuichi; Wakabayashi, Tetsuji; Iwamoto, Sadahiko; Ishibashi, Shun.
Afiliação
  • Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan. Electronic address: m-taka@jichi.ac.jp.
  • Ozaki N; Division of Endocrinology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya 453-8511, Japan.
  • Nagashima S; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan.
  • Wakabayashi T; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan.
  • Iwamoto S; Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan.
  • Ishibashi S; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan. Electronic address: ishibash@jichi.ac.jp.
J Clin Lipidol ; 15(4): 569-573, 2021.
Article em En | MEDLINE | ID: mdl-34052173
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Abetalipoproteinemia / Proteínas de Transporte / Apolipoproteína B-48 / Apolipoproteína B-100 / Heterozigoto / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Abetalipoproteinemia / Proteínas de Transporte / Apolipoproteína B-48 / Apolipoproteína B-100 / Heterozigoto / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article