Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 300-301

  Rusticeanu, M ^a   Zimmer, V ^a   Schleithoff, L ^b   Wonney, K ^a   Viera, J ^a   Zimmer, A ^a   Hubschen U ^c   Bohle, R M ^a   Grunhage F ^a   Lammert, F ^a  

^a SAARLAND UNIVERSITY   (Germany)

^b Institute of Immunology and Molecular Genetics   (Germany)

^c Abteilung für Urologie   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COMPLEMENTARY DNA; COPPER; DEFERASIROX; FERRITIN; IRON; TRANSFERRIN;

ACERULOPLASMINEMIA; ADULT; ALLELE; BASAL GANGLION; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; COPPER BLOOD LEVEL; DENTATE NUCLEUS; EXON; FERRITIN BLOOD LEVEL; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEMOCHROMATOSIS; HUMAN; INDIA; INSULIN DEPENDENT DIABETES MELLITUS; INTRON; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON OVERLOAD; LETTER; LIVER BIOPSY; MALE; METABOLIC DISORDER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THALAMUS; TRANSFERRIN BLOOD LEVEL; BRAIN; COMPLICATION; DEFICIENCY; DIABETES MELLITUS; GENETICS; IRON METABOLISM DISORDERS; LIVER; METABOLISM; MUTATION; NEURODEGENERATIVE DISEASES; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; BRAIN; CERULOPLASMIN; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; IRON METABOLISM DISORDERS; IRON OVERLOAD; LIVER; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURODEGENERATIVE DISEASES;

EID: 84892979039     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12145     Document Type: Letter

References (7)

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