Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

Gaucher disease results from an autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 that contains six genes and two pseudogenes within 75 kb. The presence of contiguous, highly homologous pseudogenes for both...

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Main Authors: Tayebi, Nahid, Stubblefield, Barbara K., Park, Joseph K., Orvisky, Eduard, Walker, Jamie M., LaMarca, Mary E., Sidransky, Ellen
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2003
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180228/
https://ncbi.nlm.nih.gov/pubmed/12587096
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