Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman, Aimi Zafira; Chua, Yung-An; Mohd Kasim, Noor Alicezah; Al-Khateeb, Alyaa; Sheikh Abdul Kadir, Siti Hamimah; Jusoh, Siti Azma; Nawawi, Hapizah

Razman, Aimi Zafira; Chua, Yung-An; Mohd Kasim, Noor Alicezah; Al-Khateeb, Alyaa; Sheikh Abdul Kadir, Siti Hamimah; Jusoh, Siti Azma; Nawawi, Hapizah.

Afiliación

Razman AZ; Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Chua YA; Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Mohd Kasim NA; Department of Biochemistry and Molecular Medicine, Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Al-Khateeb A; Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Sheikh Abdul Kadir SH; Department of Pathology, Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Jusoh SA; Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.
Nawawi H; Department of Biochemistry and Molecular Medicine, Universiti Teknologi MARA, Sungai Buloh 47000, Selangor, Malaysia.

Int J Mol Sci ; 23(23)2022 Nov 29.

Article en En | MEDLINE | ID: mdl-36499307

Asunto(s)

Hiperlipoproteinemia Tipo II; Proproteína Convertasa 9; Humanos; Proproteína Convertasa 9/genética; Hiperlipoproteinemia Tipo II/diagnóstico; Hiperlipoproteinemia Tipo II/epidemiología; Hiperlipoproteinemia Tipo II/genética; Receptores de LDL/genética; Secuenciación de Nucleótidos de Alto Rendimiento; Apolipoproteínas B; Mutación; Proteínas Adaptadoras Transductoras de Señales/genética

Palabras clave

APOB gene; FH; LDLR gene; PCSK9 gene; familial hypercholesterolaemia; genetic testing; next generation sequencing; pathogenic variants

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proproteína Convertasa 9 / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article País de afiliación: Malasia Pais de publicación: Suiza

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