The ADHIC stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany [9]

Movement Disorders

Volumn 21, Issue 11, 2006, Pages 2034-

  Schmitt, Ina ^a   Wüllner, Ullrich ^a   Healy, Daniel G ^b   Wood, Nicholas W ^b   Kölsch, Heike ^a   Heun, Reinhard ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 1C; GLYCINE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; COMPLEX FORMATION; DOPAMINERGIC NERVE CELL; ENZYME SUBSTRATE; EXON; GENE AMPLIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LETTER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHY DRAGER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; COMPARATIVE STUDY; ETHNOLOGY; FEMALE; GENE FREQUENCY; GENETICS; GERMANY; HETEROZYGOTE; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; STOP CODON; UNITED KINGDOM;

ALCOHOL DEHYDROGENASE; CASE-CONTROL STUDIES; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETICS, POPULATION; GERMANY; GLYCINE; GREAT BRITAIN; HETEROZYGOTE; HUMANS; MALE; MULTIPLE SYSTEM ATROPHY; MUTATION;

EID: 33845216661     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21082     Document Type: Letter

References (3)

1. Buervenich S, Carmine A, Galter D, et al. A rare truncating mutation in ADHIC (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol 2005;62:74-78.
2. Hoog JO, Hedberg JJ, Stromberg P, Svensson S. Mammalian alcohol dehydrogenase - functional and structural implications. J Biomed Sci 2001;8:71-76.
3. Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 1999;163:94-98.