New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred

Neuroscience Letters

Volumn 367, Issue 3, 2004, Pages 360-364

  Velez Pardo, Carlos ^a   Rio, Marlene Jimenez Del ^a   Moreno, Sonia ^a   Ramírez Gomez, Liliana ^a   Correa, Gonzalo ^b   Lopera, Francisco ^a  

^a School of Medicine   (Colombia)

^b Hospital Universitario San Vicente de Paul   (Colombia)

Author keywords

ATP 7B; Colombia; Copper; Mutation; Paisa; T1232P; Wilson

Indexed keywords

PROLINE; PROTEIN; PROTEIN ATP 7B; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INTRON; MALE; MENTAL DISEASE; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CATION TRANSPORT PROTEINS; COLOMBIA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOUNDER EFFECT; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROLINE; THREONINE;

EID: 4444277575     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2004.06.032     Document Type: Article

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