Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus

Movement Disorders

Volumn 21, Issue 12, 2006, Pages 2217-2220

  Shang, Hui Fang ^a   Jiang, Xiao Feng ^a   Burgunder, Jean Marc ^a,b   Chen, Qin ^a   Zhou, Dong ^a  

^a SICHUAN UNIVERSITY   (China)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

Aceruloplasminemia; Ceruloplasmin; Gene mutation; Iron overload

Indexed keywords

CERULOPLASMIN; IRON;

ACERULOPLASMINEMIA; ADULT; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AWARENESS; BASAL GANGLION; CASE REPORT; CHINA; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; DYSTONIA; EXON; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; HAND TREMOR; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; LIVER BIOPSY; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; VISUAL SYSTEM EXAMINATION;

CERULOPLASMIN; COGNITION DISORDERS; DIABETES COMPLICATIONS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MOVEMENT DISORDERS; MUTATION; SERINE; TRYPTOPHAN;

EID: 33846428055     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21121     Document Type: Article

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