Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement | Zendy

Ana Margarida Medeiros | Zendy; Ana Catarina Alves | Zendy; Mafalda Bourbon | Zendy

Open Access

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement

Author(s) -

Ana Margarida Medeiros,

Ana Catarina Alves,

Mafalda Bourbon

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.71

Subject(s) - familial hypercholesterolemia , apolipoprotein b , pcsk9 , genetic diagnosis , medicine , genetic testing , ldl receptor , genetics , genetic counseling , identification (biology) , cohort , genetic disorder , bioinformatics , biology , disease , cholesterol , gene , lipoprotein , botany

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism caused by mutations in LDLR, APOB, and PCSK9. To fulfill the World Health Organization recommendation, the Portuguese FH Study was established. Here, we report the results of the past 15 years and present practical considerations concerning the genetic diagnosis of FH based on our experience.

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