A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia

British Journal of Haematology

Volumn 149, Issue 6, 2010, Pages 914-916

  Saja, Khalid ^a   Bignell, Patricia ^b   Robson, Kathryn ^c   Provan, Drew ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

DNA mutation; Genetic disorders; Haemochromatosis; Iron metabolism; Iron overload

Indexed keywords

ADENINE; CYTOSINE; FERRITIN; FERROPORTIN; TRANSFERRIN;

ADULT; BLOOD CELL COUNT; CASE REPORT; CLINICAL FEATURE; COMORBIDITY; EXON; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; FERROPORTIN DISEASE; GENETIC SCREENING; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; LABORATORY TEST; LETTER; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PHLEBOTOMY; PRIORITY JOURNAL;

CATION TRANSPORT PROTEINS; FEMALE; FERRITINS; HEMOCHROMATOSIS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 77952692111     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08137.x     Document Type: Letter

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