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Digenic inheritance of severe insulin resistance in a human pedigree
David B. Savage
, Maura Agostini
, Inês Barroso
, Mark Gurnell
, Jian’an Luan
, Aline Meirhaeghe
, Anne Helen Harding
, Gudrun Ihrke
, Odelia Rajanayagam
, Maria A. Soos
, Stella George
, Dirk Berger
,
E. Louise Thomas
, Jimmy D. Bell
, Karim Meeran
, Richard J. Ross
, Antonio Vidal-Puig
, Nicholas J. Wareham
, Stephen O’Rahilly
, V. Krishna K. Chatterjee
Alan J. Schafer
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Research output
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Contribution to journal
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Article
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peer-review
138
Citations (Scopus)
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Keyphrases
Adipocyte
50%
Carbohydrate Metabolism
100%
Compound Heterozygous mutation
50%
Digenic Inheritance
100%
Extreme Insulin Resistance
50%
Familial Syndromes
50%
Family Members
50%
Frameshift
50%
Genetic Loci
50%
Human Pedigrees
100%
Impaired Insulin Secretion
50%
Inherited Susceptibility
50%
Insulin Resistance
100%
Interaction Model
50%
Lipid Metabolism
100%
Metabolic Disorders
50%
Peroxisome Proliferator-activated Receptor
100%
Protein Phosphatase
100%
Regulatory Subunit
100%
Severe Insulin Resistance
100%
Stop mutation
50%
Subunit 3
50%
Type 2 Diabetes Mellitus (T2DM)
100%
Unlinked
50%
Biochemistry, Genetics and Molecular Biology
Adipocyte
20%
Carbohydrate Metabolism
40%
Gene Locus
20%
Insulin Resistance
100%
Lipid Metabolism
40%
Metabolic Disorder
20%
Pedigree
100%
Peroxisome Proliferator-Activated Receptor
20%
Protein Phosphatase 1
40%