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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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שמור ב:
הוצא לאור ב:Genome Res
Principais autores: Winfield, Suzanne L., Tayebi, Nahid, Martin, Brian M., Ginns, Edward I., Sidransky, Ellen
פורמט: Artigo
שפה:Inglês
יצא לאור: Cold Spring Harbor Laboratory Press 1997
נושאים:
Letters
גישה מקוונת:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC310674/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9331372/
https://ncbi.nlm.nih.govhttps://doi.org/10.1101/gr.7.10.1020
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