Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay

Annals of Clinical Biochemistry

Volumn 49, Issue 3, 2012, Pages 302-305

  Thurlow, Vanessa ^a   Vadher, Bipin ^a   Bomford, Adrian ^b   DeLord, Corinne ^a   Kannengiesser, Caroline ^c,d   Beaumont, Carole ^d   Grandchamp, Bernard ^c,d  

^a Princess Royal University Hospital   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c BICHAT HOSPITAL   (France)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; L FERRITIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ASSAY; BENIGN HYPERFERRITINAEMIA; CASE REPORT; DNA SEQUENCE; GLYCOSYLATED FERRITIN ASSAY; GLYCOSYLATION; HUMAN; HYPERFERRITINEMIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGED; AMINO ACID SEQUENCE; APOFERRITINS; FERRITINS; GLYCOSYLATION; HUMANS; IRON METABOLISM DISORDERS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPEN READING FRAMES; SEQUENCE ANALYSIS, DNA;

EID: 84861508736     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1258/acb.2011.011229     Document Type: Article

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