A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

International Journal of Obesity

Volumn 39, Issue 2, 2015, Pages 295-302

  Philippe, J ^a,b,c   Stijnen, P ^d   Meyre, D ^a,b,c,e   De Graeve, F ^a,b,c   Thuillier, D ^a,b,c   Delplanque, J ^a,b,c   Gyapay, G ^f   Sand, O ^a,b,c   Creemers, J W ^d   Froguel, P ^a,b,c,g   Bonnefond, A ^a,b,c  

^a INSTITUT PASTEUR DE LILLE   (France)

^b UNIV LILLE   (France)

^c EGID FR3508 European Genomics Institute of Diabetes   (France)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e MCMASTER UNIVERSITY   (Canada)

^f CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^g HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; ARGININE; ASPARAGINE; CELL ADHESION MOLECULE; CELL ADHESION MOLECULE 2; GLUTAMINYL PEPTIDE CYCLOTRANSFERASE LIKE PROTEIN; HISTIDINE; LEUCINE; PHENYLALANINE; PROLINE; PROOPIOMELANOCORTIN; PROPROTEIN CONVERTASE 1; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 1; SERINE; SUBTILISIN; UNCLASSIFIED DRUG; PCSK1 PROTEIN, HUMAN; STOP CODON;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BODY WEIGHT; CHILD; CHROMOSOME SEGREGATION; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; OBESITY; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CAUCASIAN; FRANCE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MOLECULAR GENETICS; STOP CODON;

CODON, NONSENSE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; OBESITY; PEDIGREE; PROPROTEIN CONVERTASE 1;

EID: 84922657340     PISSN: 03070565     EISSN: 14765497     Source Type: Journal    
DOI: 10.1038/ijo.2014.96     Document Type: Article

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