Clinical Utility Gene Card for: Familial partial lipodystrophy

European Journal of Human Genetics

Volumn 25, Issue 2, 2017, Pages

  Jéru, Isabelle ^a,b,c   Vatier, Camille ^a,b,c   Araujo Vilar, David ^d   Vigouroux, Corinne ^a,b,c   Lascols, Olivier ^a,b,c  

^a HÔPITAL SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ICAN   (France)

^d UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PERILIPIN 1; CHOLESTEROL ESTERASE; CIDEC PROTEIN, HUMAN; LAMIN A; LMNA PROTEIN, HUMAN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PLIN1 PROTEIN, HUMAN; PROTEIN;

ARTICLE; CIDEC GENE; COST EFFECTIVENESS ANALYSIS; FAMILIAL PARTIAL LIPODYSTROPHY; FAMILY HISTORY; GENE; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; LIFESTYLE MODIFICATION; LIPE GENE; LMNA GENE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PPARG GENE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SANGER SEQUENCING; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; GENETICS; PHENOTYPE; PROCEDURES; STANDARDS;

GENETIC TESTING; HUMANS; LAMIN TYPE A; LIPODYSTROPHY, FAMILIAL PARTIAL; PERILIPIN-1; PHENOTYPE; PPAR GAMMA; PROTEINS; STEROL ESTERASE;

EID: 84980329504     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.102     Document Type: Article

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