Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 620-624

  Haghighi, Amirreza ^a   Razzaghy Azar, Maryam ^b   Talea, Ali ^b   Sadeghian, Mahnaz ^c   Ellard, Sian ^d   Haghighi, Alireza ^e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d UNIVERSITY OF EXETER   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

AGPAT2; Berardinelli Seip syndrome; CGL; Congenital generalized lipodystrophy

Indexed keywords

1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; 1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE 2; CALCIUM; CHOLESTEROL; CREATININE; GENOMIC DNA; GLUCOSE; GLUTAMIC ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LYSINE; OXALIC ACID; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; URIC ACID; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ABDOMINAL DISTENSION; ACANTHOSIS NIGRICANS; ACROMEGALY; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONGENITAL GENERALIZED LIPODYSTROPHY; CREATININE URINE LEVEL; DIABETES MELLITUS; DNA SEQUENCE; ECHOGRAPHY; FACE MALFORMATION; GASTROESOPHAGEAL REFLUX; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; HEPATOSPLENOMEGALY; HETEROZYGOTE; HIRSUTISM; HOARSENESS; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; HYPERCHOLESTEROLEMIA; HYPERPIGMENTATION; HYPERTENSION; HYPERTRIGLYCERIDEMIA; INFANT; INGUINAL HERNIA; INSULIN BLOOD LEVEL; IRAN; JOINT CONTRACTURE; LARGE EAR; LIVER BIOPSY; MACROPENIS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; NONALCOHOLIC FATTY LIVER; NONSENSE MUTATION; PENIS DISEASE; SUBCUTANEOUS FAT DISORDER; TRIACYLGLYCEROL BLOOD LEVEL; URIC ACID URINE LEVEL;

ACYLTRANSFERASES; CODON, NONSENSE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; IRAN; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUTATION, MISSENSE;

EID: 84867138792     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.011     Document Type: Article

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