Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
About this item
Full title
Author / Creator
Musunuru, Kiran , Pirruccello, James P , Do, Ron , Peloso, Gina M , Guiducci, Candace , Sougnez, Carrie , Garimella, Kiran V , Fisher, Sheila , Abreu, Justin , Barry, Andrew J , Fennell, Tim , Banks, Eric , Ambrogio, Lauren , Cibulskis, Kristian , Kernytsky, Andrew , Gonzalez, Elena , Rudzicz, Nicholas , Engert, James C , DePristo, Mark A , Daly, Mark J , Cohen, Jonathan C , Hobbs, Helen H , Altshuler, David , Schonfeld, Gustav , Gabriel, Stacey B , Yue, Pin and Kathiresan, Sekar
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Two family members with combined hypolipidemia (low HDL and LDL cholesterol and low triglycerides) were evaluated and found to be compound heterozygotes, each for a different nonsense mutation in
ANGPTL3,
the gene encoding the angiopoietin-like 3 protein.
Familial hypobetalipoproteinemia is an inherited disorder of lipid metabolism defined...
Alternative Titles
Full title
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Authors, Artists and Contributors
Author / Creator
Pirruccello, James P
Do, Ron
Peloso, Gina M
Guiducci, Candace
Sougnez, Carrie
Garimella, Kiran V
Fisher, Sheila
Abreu, Justin
Barry, Andrew J
Fennell, Tim
Banks, Eric
Ambrogio, Lauren
Cibulskis, Kristian
Kernytsky, Andrew
Gonzalez, Elena
Rudzicz, Nicholas
Engert, James C
DePristo, Mark A
Daly, Mark J
Cohen, Jonathan C
Hobbs, Helen H
Altshuler, David
Schonfeld, Gustav
Gabriel, Stacey B
Yue, Pin
Kathiresan, Sekar
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3008575
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3008575
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1002926
