Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2965881 | Journal of Clinical Lipidology | 2015 | 12 Pages |
Abstract
We used this LIPA sequencing strategy (detection of the relatively common exon 8 variant followed by complete gene sequencing to identify additional mutations) as a means to further elucidate the genetic basis of LAL D among individuals with a suggestive clinical phenotype.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Cardiology and Cardiovascular Medicine
Authors
Clive R. PhD, Eveline Oestreicher MD, Irina BS, Mary J. MD, Philip H. MD, Radhika MD, MPH, Anthony G. MBChB, PhD, FRCP, Brian Y. PhD, Ernst J. MD, Bela F. PhD, John P. MD, PhD,