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Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.
Hori, Mika; Takahashi, Atsushi; Hosoda, Kiminori; Harada-Shiba, Mariko.
Afiliação
  • Hori M; Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan (Drs Hori and Harada-Shiba); Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, Japan (Dr Hori); Department
  • Takahashi A; Department of Genomic Medicine, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan (Dr Takahashi). Electronic address: atsushi.takahashi@ncvc.go.jp.
  • Hosoda K; Laboratory of Clinical Genetics, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan (Dr Hosoda); Department of Diabetes and Lipid Metabolism, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan (Dr Hosoda).
  • Harada-Shiba M; Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan (Drs Hori and Harada-Shiba).
J Clin Lipidol ; 16(2): 167-172, 2022.
Article em En | MEDLINE | ID: mdl-35131226
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipercolesterolemia / Hiperlipoproteinemia Tipo II Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipercolesterolemia / Hiperlipoproteinemia Tipo II Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2022 Tipo de documento: Article