Cargando…
The genetic spectrum of familial hypercholesterolemia in Pakistan
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes coding for the low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type-9 (PCSK9) or apo-lipoprotein B-100 (APOB). The aim of the present work was to determine...
Autores principales: | Ahmed, Waqas, Whittall, Ros, Riaz, Moeen, Ajmal, Muhammad, Sadeque, Ahmed, Ayub, Humaira, Qamar, Raheel, Humphries, Steve E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701840/ https://www.ncbi.nlm.nih.gov/pubmed/23535506 http://dx.doi.org/10.1016/j.cca.2013.03.017 |
Ejemplares similares
-
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
por: Sharifi, Mahtab, et al.
Publicado: (2016) -
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
por: Ajmal, Muhammad, et al.
Publicado: (2013) -
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
por: Shafique, Sobia, et al.
Publicado: (2014) -
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population
por: Fairoozy, R. H., et al.
Publicado: (2017) -
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
por: Maria, Maleeha, et al.
Publicado: (2015)