LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.

Ho, Clement K M; Musa, Fathel Rahman; Bell, Christine; Walker, Simon W

Ho, Clement K M; Musa, Fathel Rahman; Bell, Christine; Walker, Simon W.

Afiliação

Ho CK; Department of Clinical Biochemistry, Royal Infirmary of Edinburgh, Edinburgh, UK Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
Musa FR; Department of Clinical Biochemistry, Royal Infirmary of Edinburgh, Edinburgh, UK.
Bell C; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.
Walker SW; Department of Clinical Biochemistry, Royal Infirmary of Edinburgh, Edinburgh, UK Simon.Walker@nhslothian.scot.nhs.uk.

Ann Clin Biochem ; 52(Pt 6): 680-4, 2015 Nov.

Article em En | MEDLINE | ID: mdl-25624525

Assuntos

Hiperlipoproteinemia Tipo II/genética; Splicing de RNA/genética; Receptores de LDL/genética; Mutação Silenciosa; Adulto; Sequência de Bases; Feminino; Humanos; Masculino; Linhagem; Polimorfismo de Nucleotídeo Único; RNA Mensageiro/genética

Palavras-chave

Hypercholesterolaemia; low density lipoprotein receptor; mRNA splicing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de LDL / Splicing de RNA / Mutação Silenciosa / Hiperlipoproteinemia Tipo II Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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