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Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease

Gaucher disease results from the deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45). Although the functional gene for glucocerebrosidase (GBA) and its pseudogene (psGBA), located in close proximity on chromosome 1q21, have been studied extensively, the flanking sequence has not been...

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Autors principals: Winfield, Suzanne L., Tayebi, Nahid, Martin, Brian M., Ginns, Edward I., Sidransky, Ellen
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 1997
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC310674/
https://ncbi.nlm.nih.gov/pubmed/9331372
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