Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

PLoS Genetics

Volumn 6, Issue 12, 2010, Pages 1-13

  Coassin, Stefan ^a   Schweiger, Martina ^b   Kloss Brandstätter, Anita ^a   Lamina, Claudia ^a   Haun, Margot ^a   Erhart, Gertraud ^a   Paulweber, Bernhard ^c   Rahman, Yusof ^d   Olpin, Simon ^e   Wolinski, Heimo ^b   Cornaciu, Irina ^b   Zechner, Rudolf ^b   Zimmermann, Robert ^b   Kronenberg, Florian ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF GRAZ   (Austria)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRIACYLGLYCEROL LIPASE; FATTY ACID; PNPLA2 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; CATALYSIS; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LIPIDOSIS; LIPOLYSIS; MALE; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; POINT MUTATION; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; AUSTRIA; BLOOD; CAUCASIAN; CHEMISTRY; GENETICS; HEALTH STATUS; METABOLISM; MIDDLE AGED; MUTATION; PROTEIN TERTIARY STRUCTURE;

ADULT; AGED; AUSTRIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FATTY ACIDS, NONESTERIFIED; FEMALE; GENETIC VARIATION; HEALTH STATUS; HUMANS; LIPASE; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY;

EID: 78650686992     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001239     Document Type: Article

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