A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG

Brain and Nerve

Volumn 56, Issue 10, 2004, Pages 885-889

  Nagata, Mihoko ^a   Takiyama, Yoshihisa ^c   Shimazaki, Haruo ^c   Nakano, Imaharu ^c   Miyajima, Hiroaki ^b  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NONE

Author keywords

Aceruloplasminemia; Cerebellar ataxia; Deletion mutation; Diabetes mellitus; The ceruloplasmin gene

Indexed keywords

ACERULOPLASMINEMIA; ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL EXAMINATION; GENE DELETION; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PROTEIN DEFICIENCY; RETINA DEGENERATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBELLAR ATAXIA; CERULOPLASMIN; DIABETES MELLITUS; GENE DELETION; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; RETINAL DEGENERATION;

EID: 10044256321     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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