Jeffrey Rhyne Myrna M Mantaring David F Gardner Michael Miller
10.1186/1471-2350-10-1
BMC Med Genet
2009 Jan 8;10:1.
CC BY
https://pubmed.ncbi.nlm.nih.gov/19133158/
ATP-Binding Cassette Transporters / genetics Cholesterol, HDL / blood Coronary Disease / genetics Hypoalphalipoproteinemias / genetics Mutation
ATP-Binding Cassette Transporters / genetics Cholesterol, HDL / blood Coronary Disease / genetics Hypoalphalipoproteinemias / genetics Mutation Case Reports Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. ATP Binding Cassette Transporter 1 Adult Alternative Splicing Cholesterol, HDL / genetics Coronary Disease / blood Coronary Disease / complications DNA Mutational Analysis DNA Primers Female Humans Hypoalphalipoproteinemias / blood Hypoalphalipoproteinemias / complications Male Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational ABCA1 protein, human ATP Binding Cassette Transporter 1 ATP-Binding Cassette Transporters Cholesterol, HDL DNA Primers
PMC2642808
19133158
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease
2009