A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy

Canadian Journal of Cardiology

Volumn 30, Issue 12, 2014, Pages 1649-1654

  Farhan, Sali M K ^a,b   Robinson, John F ^b   McIntyre, Adam D ^b   Marrosu, Maria G ^c   Ticca, Anna F ^c   Loddo, Sara ^d   Carboni, Nicola ^e   Brancati, Francesco ^f   Hegele, Robert A ^a,b  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b ROBARTS RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e SAN FRANCESCO HOSPITAL   (Italy)

^f University of Studies Gabriele d Annunzio Chieti Pescara   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HORMONE SENSITIVE LIPASE; STOP CODON;

ADIPOCYTE; ADULT; ARTICLE; BIOINFORMATICS; CASE REPORT; COMPUTER MODEL; EXOME; FAMILIAL PARTIAL LIPODYSTROPHY; FEMALE; GENE; HORMONE SENSITIVE LIPASE GENE; HUMAN; LINKAGE ANALYSIS; LIPID METABOLISM; MALE; MIDDLE AGED; NONSENSE MUTATION; PATHOGENICITY; PHENOTYPE; SIBLING; FOLLOW UP; GENETIC LINKAGE; GENETICS; GENOTYPE; HOMOZYGOTE; NUCLEOTIDE SEQUENCE; PEDIGREE; RETROSPECTIVE STUDY; STOP CODON;

ADULT; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FOLLOW-UP STUDIES; GENETIC LINKAGE; GENOTYPE; HOMOZYGOTE; HUMANS; LIPODYSTROPHY, FAMILIAL PARTIAL; MALE; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; SIBLINGS;

EID: 84919711918     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2014.09.007     Document Type: Article

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