Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

European Journal of Pediatrics

Volumn 157, Issue 2, 1998, Pages 128-129

  Angius, A ^b   Dessi, V ^b   Lovicu, M ^b   De Virgiliis, S ^a   Pirastu, M ^b   Cao, A ^c   Antonio, C ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Ist Ric Talassemie Anemie M   (Italy)

^c Osp Regionale per le Microcitemie   (Italy)

Author keywords

Molecular pathology; Neurological features; Wilson disease

Indexed keywords

PENICILLAMINE; TRIENTINE;

ARTICLE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; LIVER BIOPSY; LIVER FUNCTION TEST; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; WILSON DISEASE;

CHILD; COPPER; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 0031932258     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050783     Document Type: Article

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