Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

BACKGROUND: Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported in...

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Detalles Bibliográficos
Autores principales: Rhyne, Jeffrey, Mantaring, Myrna M, Gardner, David F, Miller, Michael
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642808/
https://www.ncbi.nlm.nih.gov/pubmed/19133158
http://dx.doi.org/10.1186/1471-2350-10-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642808/
https://www.ncbi.nlm.nih.gov/pubmed/19133158
http://dx.doi.org/10.1186/1471-2350-10-1

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