Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. A clinical, genetic and in silico study

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Cortés, Víctor A ^a   Smalley, Susan V ^a   Goldenberg, Denisse ^a   Lagos, Carlos F ^a   Hodgson, María I ^a   Santos, José L ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; INSULIN; METFORMIN; ROSIGLITAZONE; SITAGLIPTIN;

ADULT; AGPAT2 GENE; ARTICLE; CASE REPORT; COMPUTER MODEL; CONGENITAL GENERALIZED LIPODYSTROPHY; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTRON; LIPOATROPHIC DIABETES MELLITUS; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PROTEIN DOMAIN; PROTEIN MOTIF; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SISTER;

ACYLTRANSFERASES; ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LEPTIN; LIPODYSTROPHY, CONGENITAL GENERALIZED; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LEPTIN; SIBLINGS;

EID: 84900314697     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087173     Document Type: Article

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