Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism

Journal of Neurology Neurosurgery and Psychiatry

Volumn 71, Issue 4, 2001, Pages 531-534

  Bonifati, V ^a,c   Lucking C B ^b   Fabrizio, E ^a   Periquet, M ^b   Meco, G ^a   Brice, A ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Early onset parkinsonism; Exon rearrangements; Parkin gene

Indexed keywords

ANTIPARKINSON AGENT; DNA; DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA; LISURIDE; SELEGILINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DYSKINESIA; EXON; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING;

AGED; AGED, 80 AND OVER; ALLELES; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; HETEROZYGOTE DETECTION; HUMANS; LIGASES; MALE; NEUROLOGIC EXAMINATION; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 0034807374     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.71.4.531     Document Type: Article

References (12)

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