Novel pathogenic mutations in the glucocerebrosidase locus

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 495-497

  Duran, Raquel ^a   McNeill, Alisdair ^b   Mehta, Atul ^c   Hughes, Derralyn ^c   Cox, Timothy ^d   Deegan, Patrick ^d   Schapira, Anthony H V ^b   Hardy, John ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Gaucher's disease; GBA1 gene; Genetics; Glucocerebrosidase; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; AGED; ARTICLE; FEMALE; GAUCHER DISEASE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PRIORITY JOURNAL; RISK FACTOR; RNA SPLICING; UNITED KINGDOM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LOCI; GLUCOSYLCERAMIDASE; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84864348846     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.006     Document Type: Article

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