A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis

Journal of the Neurological Sciences

Volumn 156, Issue 1, 1998, Pages 30-34

  Yazaki, Masahide ^a   Yoshida, Kunihiro ^a,b   Nakamura, Akinori ^a   Kenichi Furihata, ^a,b   Yonekawa, Masaru ^c   Okabe, Tomohiro ^c   Yamashita, Naohito ^c   Ohta, Michiya ^d   Ikeda, Shu Ichi ^a,b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

^c Kousei General Hospital   (Japan)

^d ATOMIC BOMB SURVIVORS HOSPITAL   (Japan)

Author keywords

Aceruloplasminemia; Ceruloplasmin; Gene mutation; Iron metabolism; Splicing

Indexed keywords

CERULOPLASMIN; COPPER; FERRITIN; IRON;

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CERULOPLASMIN BLOOD LEVEL; DEMENTIA; DIABETES MELLITUS; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FERRITIN BLOOD LEVEL; GENE DELETION; GENETIC PREDISPOSITION; GENOTYPE; HEMOSIDEROSIS; HUMAN; IRON METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RETINA DEGENERATION;

ALTERNATIVE SPLICING; CERULOPLASMIN; FEMALE; HEMOSIDEROSIS; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0032539831     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00015-X     Document Type: Article

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