A novel delins mutation in the α-TTP gene in a family segregating ataxia with isolated vitamin e deficiency

Pediatric Research

Volumn 64, Issue 3, 2008, Pages 262-264

  Fernández Burriel, Miguel ^a   Martínez Rubio, Dolores ^b   Lupo, Vincenzo ^b   PIrez Colosía, Víctor ^a   Piñán López, Esther ^a   Palau, Francesc ^b   Espinós, Carmen ^b  

^a Hospital de Merida   (Spain)

^b INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOPHEROL TRANSFER PROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CARRIER PROTEIN; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; RETINOL; UNCLASSIFIED DRUG; ALPHA-TOCOPHEROL TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; ADOLESCENT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; AUTOSOMAL INHERITANCE; CASE REPORT; DRUG MEGADOSE; FAMILY; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC TRAIT; HETEROZYGOTE; HUMAN; LIPID ABSORPTION; LIPOPROTEIN BLOOD LEVEL; MALABSORPTION; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PARENT; PRIORITY JOURNAL; VITAMIN BLOOD LEVEL; VITAMIN SUPPLEMENTATION; BLOOD; DIET SUPPLEMENTATION; DIET THERAPY; GENETICS; MUTATION; PEDIGREE;

ADOLESCENT; APOLIPOPROTEIN A-I; APOLIPOPROTEINS B; ATAXIA; CARRIER PROTEINS; DIETARY SUPPLEMENTS; HUMANS; MALE; MUTATION; PEDIGREE; VITAMIN E; VITAMIN E DEFICIENCY;

EID: 55749115433     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e31817d9bf7     Document Type: Article

References (19)

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