Deletion of GPIHBP1 causing severe chylomicronemia

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Epidemiology of β-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat

(2010) Roshan Colah et al.   BRITISH JOURNAL OF HAEMATOLOGY

GPIHBP1 Is Responsible for the Entry of Lipoprotein Lipase into Capillaries

(2010) Brandon S.J. Davies et al.   Cell Metabolism

Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

(2010) Remco Franssen et al.   Circulation-Cardiovascular Genetics

Hyperlipidemia Resulting in Abnormal Density and Signal Intensity of Blood in a Neonate with Lipoprotein Lipase Deficiency: Fig 1.

(2009) K. Koral et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Chylomicronemia With a Mutant GPIHBP1 (Q115P) That Cannot Bind Lipoprotein Lipase

(2009) Anne P. Beigneux et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Two novelAIREmutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians

(2009) G Zaidi et al.   CLINICAL GENETICS

Highly Conserved Cysteines within the Ly6 Domain of GPIHBP1 Are Crucial for the Binding of Lipoprotein Lipase

(2009) Anne P. Beigneux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

(2009) Gunilla Olivecrona et al.   JOURNAL OF LIPID RESEARCH

Structure and ligand interactions of the urokinase receptor (uPAR)

(2008) Magnus Kjaergaard   Frontiers in Bioscience-Landmark

The Acidic Domain of GPIHBP1 Is Important for the Binding of Lipoprotein Lipase and Chylomicrons

(2008) Peter Gin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abnormal Patterns of Lipoprotein Lipase Release into the Plasma in GPIHBP1-deficient Mice

(2008) Michael M. Weinstein et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic landscape of the people of India: a canvas for disease gene exploration

(2008)   JOURNAL OF GENETICS

GPIHBP1, a GPI-anchored protein required for the lipolytic processing of triglyceride-rich lipoproteins

(2008) Anne P. Beigneux et al.   JOURNAL OF LIPID RESEARCH

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Neurofibromatosis Type 1 Revisited

(2008) V. C. Williams et al.   PEDIATRICS