Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis

Journal of the Neurological Sciences

Volumn 298, Issue 1-2, 2010, Pages 136-139

  Hida, Ayumi ^a   Kowa, Hisatomo ^a   Iwata, Atsushi ^a   Tanaka, Masaki ^a   Kwak, Shin ^a   Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

Aceruloplasminemia; Ceruloplasmin; Desferrioxamine mesylate; W1017X

Indexed keywords

CERULOPLASMIN; CYSTEINE; DEFEROXAMINE MESYLATE;

ACERULOPLASMINEMIA; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; COGNITIVE DEFECT; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXON; FEMALE; GENETIC ANALYSIS; GOLGI COMPLEX; HUMAN; IN VITRO STUDY; JAPANESE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN SECRETION; SHORT TERM MEMORY; WORKING MEMORY;

BLOTTING, WESTERN; BRAIN; CALRETICULIN; CELLS, CULTURED; CERULOPLASMIN; COGNITION DISORDERS; DNA; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; EYE; FEMALE; GAIT DISORDERS, NEUROLOGIC; GOLGI APPARATUS; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 77958153346     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.08.019     Document Type: Article

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