Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 81-84

  Takahashi, Yoshitomo ^a   Miyajima, Hiroaki ^a   Shirabe, Susumu ^b   Nagataki, Shigenobu ^b   Suenaga, Akihito ^b   Gitlin, Jonathan D ^c  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; IRON;

ADULT; ARTICLE; ATAXIA; BASAL GANGLION; CASE REPORT; DEGENERATIVE DISEASE; DIABETES MELLITUS; FEMALE; HUMAN; HUMAN CELL; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RETINA DEGENERATION;

AMINO ACID SEQUENCE; ATAXIA; BASE SEQUENCE; CERULOPLASMIN; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; DYSARTHRIA; FEMALE; GAIT; HUMANS; IRON; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RETINAL DEGENERATION;

ATAXIA; POMACANTHUS MACULOSUS; RAPHIA FRATER;

EID: 0030027565     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.81     Document Type: Article

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