Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: A report of four cases

European Journal of Pediatrics

Volumn 168, Issue 8, 2009, Pages 983-989

  Chardon, Laurence ^a   Sassolas, Agnès ^b   Dingeon, Bernard ^c   Michel Calemard, Laurence ^b   Bovier Lapierre, Michel ^c   Moulin, Philippe ^b,d,e,f,g   Lachaux, Alain ^a,e,h  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^d UNIVERSITÉ DE LYON   (France)

^e INSERM   (France)

^f CEMAGREF   (France)

^g UNIVERSITÉ DE LYON   (France)

^h UNIVERSITÉ LYON 1   (France)

Author keywords

Abetalipoproteinemia; Microsomal triglyceride transfer protein; Vitamin E

Indexed keywords

ALPHA TOCOPHEROL; RETINOL; VITAMIN D; VITAMIN K GROUP;

ABETALIPOPROTEINEMIA; ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE AMPLIFICATION; HUMAN; INFANT; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 67449155350     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0888-6     Document Type: Article

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